ScopeSYNLAB Medizinisches Versorgungszentrum Humangenetik Mannheim
Official name: SYNLAB Medizinisches Versorgungszentrum Humangenetik Mannheim GmbH
893 capabilities
Accredited since May 2025
Verified Oct 2026
One of 3,209 in Germany
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Details
Harrlachweg 1
Mannheim 68163 , Germany
Mannheim 68163 , Germany
Accreditation
Active
DAkkS
D-ML-13293-01-00
www.synlab.com/lab/mannheim-genetik
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Specialises in human genetics testing including molecular human genetics and cytogenetics, with accreditation scope permitting modification and development of laboratory procedures for genetic analysis.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13293-01-00
Status
ActiveSince
06 May 2025
Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.
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Test Capabilities (893)
| Standard Reference | Description | Category |
|---|---|---|
| Arrhythmogene rechtsventrikuläre | Arrhythmogene rechtsventrikuläre | Biocompatibility (ISO 10993) |
| (NM_004329), CHEK2 | (NM_004329), CHEK2 | Biological / Microbiological |
| Erythrozytose, familiäre (ECYT2) | Erythrozytose, familiäre (ECYT2) | Chemical |
| TSEN54 | TSEN54 | Chemical |
| AMH | AMH | Clinical Chemistry |
| APC | APC | Clinical Chemistry |
| LP-a | LPA | Clinical Chemistry |
| (HFE) | Hämochromatose (HFE) | Elemental Analysis |
| ACTA2 | ACTA2 | Elemental Analysis |
| ACTC1 | ACTC1 | Elemental Analysis |
| C3 | MYBPC3 | Elemental Analysis |
| CACNA1C | CACNA1C | Elemental Analysis |
| CACNB2 | CACNB2 | Elemental Analysis |
| GPD1L | GPD1L | Elemental Analysis |
| KCNE1 | KCNE1 | Elemental Analysis |
| KCNE2 | KCNE2 | Elemental Analysis |
| KCNE3 | KCNE3 | Elemental Analysis |
| KCNH2 | KCNH2 | Elemental Analysis |
| KCNJ11 | KCNJ11 | Elemental Analysis |
| KCNQ1 | KCNQ1 | Elemental Analysis |
| MYH7 | MYH7 | Elemental Analysis |
| PRKAG2 | PRKAG2 | Elemental Analysis |
| PTPN11 | PTPN11 | Elemental Analysis |
| SCN5A | SCN5A | Elemental Analysis |
| Störung der | Störung der | Elemental Analysis |
| TGFBR1 | TGFBR1 | Elemental Analysis |
| TGFBR2 | TGFBR2 | Elemental Analysis |
| TNNI3 | TNNI3 | Elemental Analysis |
| TPM1 | TPM1 | Elemental Analysis |
| CBFb-MYH11 | CBFb-MYH11 | Food Safety Testing |
| DIN EN 116 (1998-01) | ID116 | Fuel Testing |
| Histiozytose | Meerblaue Histiozytose | Hematology |
| ASL | ASL | Immunology / Serology |
| (-13910C>T) | (-13910C>T) | Molecular Diagnostics / PCR |
| (AAT, TAAD) - EBM 11448: ID020 | (AAT, TAAD) - EBM 11448: ID020 | Molecular Diagnostics / PCR |
| (AAT4) | (AAT4) | Molecular Diagnostics / PCR |
| (ACMICD) | (ACMICD) | Molecular Diagnostics / PCR |
| (ALS) | (ALS) | Molecular Diagnostics / PCR |
| (AMD, ARMD): ID186 | (AMD, ARMD): ID186 | Molecular Diagnostics / PCR |
| (ANCR, 15q11-q13) | (ANCR, 15q11-q13) | Molecular Diagnostics / PCR |
| (ASD, VSD, AVSD): ID143 | (ASD, VSD, AVSD): ID143 | Molecular Diagnostics / PCR |
| (ATFB): ID016 | (ATFB): ID016 | Molecular Diagnostics / PCR |
| (ATFB10) | (ATFB10) | Molecular Diagnostics / PCR |
| (AZFa, AZFb, AZFc) | (AZFa, AZFb, AZFc) | Molecular Diagnostics / PCR |
| (CAH): ID111 | (CAH): ID111 | Molecular Diagnostics / PCR |
| (CAKUT): ID229 | (CAKUT): ID229 | Molecular Diagnostics / PCR |
| (CDLS): ID033 | (CDLS): ID033 | Molecular Diagnostics / PCR |
| (CFC1) | (CFC1) | Molecular Diagnostics / PCR |
| (CFC2) | (CFC2) | Molecular Diagnostics / PCR |
| (CLN): ID132 | (CLN): ID132 | Molecular Diagnostics / PCR |
| (CMD, DCM): ID008 | (CMD, DCM): ID008 | Molecular Diagnostics / PCR |
| (CMD1FF) | (CMD1FF) | Molecular Diagnostics / PCR |
| (CMD1GG) | (CMD1GG) | Molecular Diagnostics / PCR |
| (CMD1MM) | (CMD1MM) | Molecular Diagnostics / PCR |
| (CMD1S) | (CMD1S) | Molecular Diagnostics / PCR |
| (CMD1Y) | (CMD1Y) | Molecular Diagnostics / PCR |
| (CMH, HCM): ID007 | (CMH, HCM): ID007 | Molecular Diagnostics / PCR |
| (CMH6) | (CMH6) | Molecular Diagnostics / PCR |
| (CMM): ID193 | (CMM): ID193 | Molecular Diagnostics / PCR |
| (CMT, HMSN): ID051 | (CMT, HMSN): ID051 | Molecular Diagnostics / PCR |
| (COXPD): ID287 | (COXPD): ID287 | Molecular Diagnostics / PCR |
| (CTHM): ID160 | (CTHM): ID160 | Molecular Diagnostics / PCR |
| (DEE, EIEE): ID080 | (DEE, EIEE): ID080 | Molecular Diagnostics / PCR |
| (EDM): ID202 | (EDM): ID202 | Molecular Diagnostics / PCR |
| (EDMD): ID121 | (EDMD): ID121 | Molecular Diagnostics / PCR |
| (EPD) | (EPD) | Molecular Diagnostics / PCR |
| (FAP1) | (FAP1) | Molecular Diagnostics / PCR |
| (FAP2) | (FAP2) | Molecular Diagnostics / PCR |
| (FCHL2) | (FCHL2) | Molecular Diagnostics / PCR |
| (FEPS): ID268 | (FEPS): ID268 | Molecular Diagnostics / PCR |
| (FHCL1) | (FHCL1) | Molecular Diagnostics / PCR |
| (FHCL3) | (FHCL3) | Molecular Diagnostics / PCR |
| (FHCL4) | (FHCL4) | Molecular Diagnostics / PCR |
| (FHM2) | (FHM2) | Molecular Diagnostics / PCR |
| (FXTAS) | (FXTAS) | Molecular Diagnostics / PCR |
| (GAMOS): ID251 | (GAMOS): ID251 | Molecular Diagnostics / PCR |
| (GEFSP, GEFS+): ID235 | (GEFSP, GEFS+): ID235 | Molecular Diagnostics / PCR |
| (GIST): ID226 | (GIST): ID226 | Molecular Diagnostics / PCR |
| (HBOC): ID003 | (HBOC): ID003 | Molecular Diagnostics / PCR |
| (HFI) | (HFI) | Molecular Diagnostics / PCR |
| (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | (HHF): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, UCP2 | Molecular Diagnostics / PCR |
| (HMN, DSMA): ID254 | (HMN, DSMA): ID254 | Molecular Diagnostics / PCR |
| (HPC9) | (HPC9) | Molecular Diagnostics / PCR |
| (HPF): ID088 | (HPF): ID088 | Molecular Diagnostics / PCR |
| (HSAN, HSN): ID086 | (HSAN, HSN): ID086 | Molecular Diagnostics / PCR |
| (LCA) | (LCA): ID187 | Molecular Diagnostics / PCR |
| (LGMD): ID122 | (LGMD): ID122 | Molecular Diagnostics / PCR |
| (MFD): ID188 | (MFD): ID188 | Molecular Diagnostics / PCR |
| (MSI-H): ID283 | (MSI-H): ID283 | Molecular Diagnostics / PCR |
| (NBIA): ID264 | (NBIA): ID264 | Molecular Diagnostics / PCR |
| (NM_000179), PALB2 | (NM_000179), PALB2 | Molecular Diagnostics / PCR |
| (OMIM 601728), RAD51C | (OMIM 601728), RAD51C | Molecular Diagnostics / PCR |
| (PAH) | (PAH) | Molecular Diagnostics / PCR |
| (PAIS) | (PAIS) | Molecular Diagnostics / PCR |
| (PCH) | (PCH) | Molecular Diagnostics / PCR |
| (PHA): ID250 | (PHA): ID250 | Molecular Diagnostics / PCR |
| (POF): ID078 | (POF): ID078 | Molecular Diagnostics / PCR |
| (PREMBL, OOMD): ID239 | (PREMBL, OOMD): ID239 | Molecular Diagnostics / PCR |
| (PTORCH1) | (PTORCH1) | Molecular Diagnostics / PCR |
| (PWCR, 15q11-q13) | (PWCR, 15q11-q13) | Molecular Diagnostics / PCR |
| (PWS) | Prader-Willi-Syndrom (PWS) | Molecular Diagnostics / PCR |
| (RCM): ID105 | (RCM): ID105 | Molecular Diagnostics / PCR |
| (SCDO): ID227 | (SCDO): ID227 | Molecular Diagnostics / PCR |
| (SED, SMD, SEMD): ID110 | (SED, SMD, SEMD): ID110 | Molecular Diagnostics / PCR |
| (SPGF): ID192 | (SPGF): ID192 | Molecular Diagnostics / PCR |
| (THC) | Thrombozytopenie (THC): ID104 | Molecular Diagnostics / PCR |
| (WMS): ID230 | (WMS): ID230 | Molecular Diagnostics / PCR |
| (WWS, MDDGA): ID178 | (WWS, MDDGA): ID178 | Molecular Diagnostics / PCR |
| (rs10455872, rs3798220) | (rs10455872, rs3798220) | Molecular Diagnostics / PCR |
| 158 | ID158 | Molecular Diagnostics / PCR |
| 3M-Syndrom (3M): ID214 | 3M-Syndrom (3M): ID214 | Molecular Diagnostics / PCR |
| ABCD1 | ABCD1 | Molecular Diagnostics / PCR |
| AKT1 | AKT1 | Molecular Diagnostics / PCR |
| ALDH7A1 | ALDH7A1 | Molecular Diagnostics / PCR |
| ALDOB | ALDOB | Molecular Diagnostics / PCR |
| AMHR2 | AMHR2 | Molecular Diagnostics / PCR |
| AMT | AMT | Molecular Diagnostics / PCR |
| APC-Resistenz (THPH2) | APC-Resistenz (THPH2) | Molecular Diagnostics / PCR |
| APOA5 | APOA5: Exon 2, 3, 4; Familiäre | Molecular Diagnostics / PCR |
| APOB | APOB: alle Exone und die flankierenden Sequenzen; Familiäre | Molecular Diagnostics / PCR |
| APOB, PCSK9, LDLRAP1 | APOB, PCSK9, LDLRAP1 | Molecular Diagnostics / PCR |
| APOC2 | APOC2 | Molecular Diagnostics / PCR |
| APOE | APOE | Molecular Diagnostics / PCR |
| AQP2 | AQP2 | Molecular Diagnostics / PCR |
| AS-Chromosomenregion | AS-Chromosomenregion | Molecular Diagnostics / PCR |
| ATM | ATM | Molecular Diagnostics / PCR |
| ATP1A2 | ATP1A2 | Molecular Diagnostics / PCR |
| ATP7B | Panel; HFE, HJV, HAMP, FTL, TMPRSS6, ATP7B | Molecular Diagnostics / PCR |
| AV-Block, progressiver (PFHB1A) | AV-Block, progressiver (PFHB1A) | Molecular Diagnostics / PCR |
| AVPR2 | AVPR2 | Molecular Diagnostics / PCR |
| AZF-Chromosomenregionen | AZF-Chromosomenregionen | Molecular Diagnostics / PCR |
| Achondroplasie (ACH) | Achondroplasie (ACH) | Molecular Diagnostics / PCR |
| Achromatopsie (ACHM) | Achromatopsie (ACHM): ID164 | Molecular Diagnostics / PCR |
| Adenomatöse Polyposis | Familiäre Adenomatöse Polyposis | Molecular Diagnostics / PCR |
| Adipositas | Adipositas | Molecular Diagnostics / PCR |
| Adipositas mit adrenaler | Adipositas mit adrenaler | Molecular Diagnostics / PCR |
| Adrenale Hyperplasie, Typ III | Adrenale Hyperplasie, Typ III | Molecular Diagnostics / PCR |
| Adrenogenitales Syndrom (AGS) | Adrenogenitales-Syndrom (AGS) | Molecular Diagnostics / PCR |
| Adrenoleukodystrophie (ALD) | Adrenoleukodystrophie (ALD) | Molecular Diagnostics / PCR |
| Agammaglobulinämie, X-chromosomal (XLA) | Agammaglobulinämie, X-chromosomal (XLA) | Molecular Diagnostics / PCR |
| Akromikrische Dysplasie | Akromikrische Dysplasie | Molecular Diagnostics / PCR |
| Alagille-Syndrom (ALGS): ID112 | Alagille-Syndrom (ALGS): ID112 | Molecular Diagnostics / PCR |
| Albinismus | Albinismus: ID175 | Molecular Diagnostics / PCR |
| Alport-Syndrom (ATS) | Alport-Syndrom (ATS) | Molecular Diagnostics / PCR |
| Alternierende Hemiplegie des | Alternierende Hemiplegie des | Molecular Diagnostics / PCR |
| Altersbedingte | Altersbedingte | Molecular Diagnostics / PCR |
| Alzheimer-Krankheit (AD): ID157 | Alzheimer-Krankheit (AD): ID157 | Molecular Diagnostics / PCR |
| Alzheimer-Krankheit 2 (AD2) | Alzheimer-Krankheit 2 (AD2) | Molecular Diagnostics / PCR |
| Amyotrophe Lateralsklerose | Amyotrophe Lateralsklerose | Molecular Diagnostics / PCR |
| Androgen-Insensitivität (AIS) | Androgen-Insensitivität (AIS) | Molecular Diagnostics / PCR |
| Androgen-Insensitivität, partielle | Androgen-Insensitivität, partielle | Molecular Diagnostics / PCR |
| Angelman Syndrom | Angelman-Syndrom | Molecular Diagnostics / PCR |
| Anophthalmus: ID263 | Anophthalmus: ID263 | Molecular Diagnostics / PCR |
| Anosmie (KAL, HH): ID170 | Anosmie (KAL, HH): ID170 | Molecular Diagnostics / PCR |
| Antley-Bixler-Syndrom (ABS2) | Antley-Bixler-Syndrom (ABS2) | Molecular Diagnostics / PCR |
| Anämie | Heinz-Körper-Anämie | Molecular Diagnostics / PCR |
| Aortenbeteiligung: ID137 | Aortenbeteiligung: ID137 | Molecular Diagnostics / PCR |
| Apert-Syndrom | Apert-Syndrom | Molecular Diagnostics / PCR |
| Arachnodaktylie | Arachnodaktylie: ID124 | Molecular Diagnostics / PCR |
| Argininbernsteinsäure-Krankheit | Argininbernsteinsäure-Krankheit | Molecular Diagnostics / PCR |
| Arrhythmien, umfassende Diagnostik: ID026 | Arrhythmien, umfassende Diagnostik: ID026 | Molecular Diagnostics / PCR |
| Arterienkalzifikation, generalisierte infantile (GACI2) | Arterienkalzifikation, generalisierte infantile (GACI2) | Molecular Diagnostics / PCR |
| Arthrogrypose | Arthrogrypose: ID200 | Molecular Diagnostics / PCR |
| Ataxia teleangiectatica (AT) | Ataxia teleangiectatica (AT) | Molecular Diagnostics / PCR |
| Atriumseptumdefekt (ASD5) | Atriumseptumdefekt (ASD5) | Molecular Diagnostics / PCR |
| Atypisches hämolytisch-urämisches | Atypisches hämolytisch-urämisches | Molecular Diagnostics / PCR |
| Augensegmentes (ASGD): ID182 | Augensegmentes (ASGD): ID182 | Molecular Diagnostics / PCR |
| Ausschluss mütterlicher | Ausschluss mütterlicher | Molecular Diagnostics / PCR |
| Autoinflammatorische Syndrome, umfassende Diagnostik: ID087 | Autoinflammatorische Syndrome, umfassende Diagnostik: ID087 | Molecular Diagnostics / PCR |
| Azoospermie | Azoospermie | Molecular Diagnostics / PCR |
| BBS10 | BBS10 | Molecular Diagnostics / PCR |
| BRAF | BRAF | Molecular Diagnostics / PCR |
| BRCA1 | BRCA1 | Molecular Diagnostics / PCR |
| BRCA1/BRCA2 | BRCA1/BRCA2: ID001 | Molecular Diagnostics / PCR |
| BRIP1 | BRIP1 | Molecular Diagnostics / PCR |
| BTD | BTD | Molecular Diagnostics / PCR |
| BTK | BTK | Molecular Diagnostics / PCR |
| Bardet-Biedel-Syndrom (BBS10) | Bardet-Biedel-Syndrom (BBS10) | Molecular Diagnostics / PCR |
| Bart-Pumphrey-Syndrome (BAPS) | Bart-Pumphrey-Syndrome (BAPS) | Molecular Diagnostics / PCR |
| Bartter-Syndrom (BARTS): ID156 | Bartter-Syndrom (BARTS): ID156 | Molecular Diagnostics / PCR |
| Beare-Stevenson-Cutis gyrata- Syndrom (BSTVS) | Beare-Stevenson-Cutis gyrata- Syndrom (BSTVS) | Molecular Diagnostics / PCR |
| Benigne neonatale und infantile | Benigne neonatale und infantile | Molecular Diagnostics / PCR |
| Beta-Thalassämie | Beta-Thalassämie | Molecular Diagnostics / PCR |
| Beta-Thalassämie, dominant mit Einschlusskörpern | Beta-Thalassämie, dominant mit Einschlusskörpern | Molecular Diagnostics / PCR |
| Bewegungsstörungen: ID272 | Bewegungsstörungen: ID272 | Molecular Diagnostics / PCR |
| Biotinidase-Mangel | Biotinidase-Mangel | Molecular Diagnostics / PCR |
| Blepharocheilodontisches | Blepharocheilodontisches | Molecular Diagnostics / PCR |
| Brachydaktylie (BD): ID218 | Brachydaktylie (BD): ID218 | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA): ID014 | Brugada-Syndrom (BRGDA): ID014 | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA1) | Brugada-Syndrom (BRGDA1) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA2) | Brugada-Syndrom (BRGDA2) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA3) | Brugada-Syndrom (BRGDA3) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA4) | Brugada-Syndrom (BRGDA4) | Molecular Diagnostics / PCR |
| Brugada-Syndrom (BRGDA6) | Brugada-Syndrom (BRGDA6) | Molecular Diagnostics / PCR |
| Brustkrebs | Prädisposition für Brustkrebs | Molecular Diagnostics / PCR |
| Brustkrebs, lobulärer | Brustkrebs, lobulärer | Molecular Diagnostics / PCR |
| Budd-Chiari-Syndrom (BDCHS) | Budd-Chiari-Syndrom (BDCHS) | Molecular Diagnostics / PCR |
| CADASIL und CARASIL: ID167 | CADASIL und CARASIL: ID167 | Molecular Diagnostics / PCR |
| CATSHL-Syndrom (CATSHLS) | CATSHL-Syndrom (CATSHLS) | Molecular Diagnostics / PCR |
| CDH1 | CDH1 | Molecular Diagnostics / PCR |
| CFTR | CFTR | Molecular Diagnostics / PCR |
| COL1A1 | COL1A1 | Molecular Diagnostics / PCR |
| COL1A2 | COL1A2 | Molecular Diagnostics / PCR |
| COL4A3 | COL4A3 | Molecular Diagnostics / PCR |
| CYBB | CYBB | Molecular Diagnostics / PCR |
| CYP21A2 | CYP21A2 | Molecular Diagnostics / PCR |
| Caffey-Krankheit (CAFYD) | Caffey-Krankheit (CAFYD) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, Typ VI (HMSN6A) | Charcot-Marie-Tooth-Krankheit, Typ VI (HMSN6A) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, X-chromosomal (CMTX1) | Charcot-Marie-Tooth-Krankheit, X-chromosomal (CMTX1) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, axonal (CMT2A2) | Charcot-Marie-Tooth-Krankheit, axonal (CMT2A2) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, axonal (CMT2B1) | Charcot-Marie-Tooth-Krankheit, axonal (CMT2B1) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, axonal (CMT2I) | Charcot-Marie-Tooth-Krankheit, axonal (CMT2I) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, axonal (CMT2J) | Charcot-Marie-Tooth-Krankheit, axonal (CMT2J) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1A) | Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1A) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1B) | Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1B) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1E) | Charcot-Marie-Tooth-Krankheit, demyelinisierend (CMT1E) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Krankheit, intermediärer Typ (CMTDID) | Charcot-Marie-Tooth-Krankheit, intermediärer Typ (CMTDID) | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Neuropathie, axonale Form | Charcot-Marie-Tooth-Neuropathie, axonale Form | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Neuropathie, demyelinisierende Form | Charcot-Marie-Tooth-Neuropathie, demyelinisierende Form | Molecular Diagnostics / PCR |
| Choreatiforme | Choreatiforme | Molecular Diagnostics / PCR |
| Chronische Granulomatose, X-chromosomal (CGDX) | Chronische Granulomatose, X-chromosomal (CGDX) | Molecular Diagnostics / PCR |
| Clinical Exome Sequencing | Clinical Exome Sequencing | Molecular Diagnostics / PCR |
| Clouston-Syndrom | Clouston-Syndrom | Molecular Diagnostics / PCR |
| Coffin-Siris-Syndrom (CSS): ID118 | Coffin-Siris-Syndrom (CSS): ID118 | Molecular Diagnostics / PCR |
| Cornelia de Lange Syndrom | Cornelia-de-Lange-Syndrom: NIPBL, DXS423E / SMC1A, SMC3, RAD21, HDAC8, AFF4, SETD5, KMT2A, MAU2, BRD4 | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS): ID075 | Cowden-Syndrom (CWS): ID075 | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS1) | Cowden-Syndrom (CWS1) | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS5) | Cowden-Syndrom (CWS5) | Molecular Diagnostics / PCR |
| Cowden-Syndrom (CWS7) | Cowden-Syndrom (CWS7) | Molecular Diagnostics / PCR |
| Cowden-Syndrom(CWS6) | Cowden-Syndrom(CWS6) | Molecular Diagnostics / PCR |
| Crigler-Najjar-Syndrom | Crigler-Najjar-Syndrom | Molecular Diagnostics / PCR |
| Crouzon-Syndrom | Crouzon-Syndrom | Molecular Diagnostics / PCR |
| Crouzon-Syndrom mit Acanthosis nigricans (CAN) | Crouzon-Syndrom mit Acanthosis nigricans (CAN) | Molecular Diagnostics / PCR |
| Cutis laxa (ARCL, ADCL): ID109 | Cutis laxa (ARCL, ADCL): ID109 | Molecular Diagnostics / PCR |
| Cystinurie | Homocystinurie: ID191 | Molecular Diagnostics / PCR |
| D3) | autosomal- rezessiv (EDMD3) | Molecular Diagnostics / PCR |
| DHCR7 | DHCR7 | Molecular Diagnostics / PCR |
| DIN EN 145 (2000-06) | ID145 | Molecular Diagnostics / PCR |
| DIN EN 152 (2012-02) | ID152 | Molecular Diagnostics / PCR |
| DIN EN 161 (2013) | ID161 | Molecular Diagnostics / PCR |
| DIN EN 168 (2002-04) | ID168 | Molecular Diagnostics / PCR |
| DIN EN 174 (2001-07) | ID174 | Molecular Diagnostics / PCR |
| DIN EN 179 (2008-04) | ID179 | Molecular Diagnostics / PCR |
| DIN EN 20-1 (1992-09) | ID201 | Molecular Diagnostics / PCR |
| DIN EN 232 (2013-01) | ID232 | Molecular Diagnostics / PCR |
| DIN EN 238 (2004-04) | ID238 | Molecular Diagnostics / PCR |
| DIN EN 257 (2010) | ID257 | Molecular Diagnostics / PCR |
| DIN EN 280 | ID280 | Molecular Diagnostics / PCR |
| DIN EN 3-9 (2007-02) | ID039 | Molecular Diagnostics / PCR |
| DIN EN ISO 177 (2017-05) | ID177 | Molecular Diagnostics / PCR |
| DNAH5 | DNAH5 | Molecular Diagnostics / PCR |
| DNAI1 | DNAI1 | Molecular Diagnostics / PCR |
| DYM | DYM | Molecular Diagnostics / PCR |
| Defizienz der mitochondrialen | Defizienz der mitochondrialen | Molecular Diagnostics / PCR |
| Delta-beta-Thalassämie | Delta-beta-Thalassämie | Molecular Diagnostics / PCR |
| Desmoid-Fibromatose, hereditäre (DESMD) | Desmoid-Fibromatose, hereditäre (DESMD) | Molecular Diagnostics / PCR |
| Diabetes insipidus, nephrogener, X-chromosomal | Diabetes insipidus, nephrogener, X-chromosomal | Molecular Diagnostics / PCR |
| Diabetes insipidus, nephrogener, autosomal | Diabetes insipidus, nephrogener, autosomal | Molecular Diagnostics / PCR |
| Diabetes mellitus, permanenter | Diabetes mellitus, permanenter | Molecular Diagnostics / PCR |
| Diabetes mellitus, transienter | Diabetes mellitus, transienter | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie | Dilatative Kardiomyopathie | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie (CMD1A) | Dilatative Kardiomyopathie (CMD1A) | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie (CMD1E) | Dilatative Kardiomyopathie (CMD1E) | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie (CMD1NN) | Dilatative Kardiomyopathie (CMD1NN) | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie (CMD1R) | Dilatative Kardiomyopathie (CMD1R) | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie (CMD2A) | Dilatative Kardiomyopathie (CMD2A) | Molecular Diagnostics / PCR |
| Distale Arthrogryposis (DA): ID196 | Distale Arthrogryposis (DA): ID196 | Molecular Diagnostics / PCR |
| Distale Myopathie (MPD1) | Distale Myopathie (MPD1) | Molecular Diagnostics / PCR |
| Distale motorische Neuropathie | Distale motorische Neuropathie | Molecular Diagnostics / PCR |
| Duchenne-Muskeldytrophie und | Duchenne-Muskeldystrophie | Molecular Diagnostics / PCR |
| Dyggve-Melchior-Clausen- Krankheit (DMC) | Dyggve-Melchior-Clausen- Krankheit (DMC) | Molecular Diagnostics / PCR |
| Dyserythropoietische Anämie, kongenitale (CDAN2) | Dyserythropoietische Anämie, kongenitale (CDAN2) | Molecular Diagnostics / PCR |
| Dysgenesie des vorderen | Dysgenesie des vorderen | Molecular Diagnostics / PCR |
| Dysplasie (ARVD, ARVC): ID010 | Dysplasie (ARVD, ARVC): ID010 | Molecular Diagnostics / PCR |
| Dysplasie mit gekrümmten Knochen (BBDS) | Dysplasie mit gekrümmten Knochen (BBDS) | Molecular Diagnostics / PCR |
| Dystonie (DYT): ID128 | Dystonie (DYT): ID128 | Molecular Diagnostics / PCR |
| Ectopia lentis (ECTOL1) | Ectopia lentis (ECTOL1) | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom | Ehlers-Danlos-Syndrom | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom, Arthrochalasie-Typ (EDSARTH1) | Ehlers-Danlos-Syndrom, Arthrochalasie-Typ (EDSARTH1) | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom, Arthrochalasie-Typ (EDSARTH2) | Ehlers-Danlos-Syndrom, Arthrochalasie-Typ (EDSARTH2) | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom, Herzklappen-Typ (EDSCV) | Ehlers-Danlos-Syndrom, Herzklappen-Typ (EDSCV) | Molecular Diagnostics / PCR |
| Eierstockkrebs | Prädisposition für Eierstockkrebs | Molecular Diagnostics / PCR |
| Eisenablagerung im Gehirn | Eisenablagerung im Gehirn | Molecular Diagnostics / PCR |
| Elliptozytose (EL): ID203 | Elliptozytose (EL): ID203 | Molecular Diagnostics / PCR |
| Emery-Dreifuss Muskeldystrophie | Emery-Dreifuss-Muskeldystrophie | Molecular Diagnostics / PCR |
| Emery-Dreifuss-Muskeldystrophie, autosomal-dominant (EDMD2) | Emery-Dreifuss-Muskeldystrophie, autosomal-dominant (EDMD2) | Molecular Diagnostics / PCR |
| Entwicklungsbedingte und epileptische Enzephalopathie (DEE42) | Entwicklungsbedingte und epileptische Enzephalopathie (DEE42) | Molecular Diagnostics / PCR |
| Entwicklungsstörung | Entwicklungsstörung | Molecular Diagnostics / PCR |
| Epidermolysis bullosa (EB): ID198 | Epidermolysis bullosa (EB): ID198 | Molecular Diagnostics / PCR |
| Epilepsie mit schwerer | Epilepsie mit schwerer | Molecular Diagnostics / PCR |
| Epilepsie, Pyridoxin-abhängige | Epilepsie, Pyridoxin-abhängige | Molecular Diagnostics / PCR |
| Epilepsie, fokale Form: ID208 | Epilepsie, fokale Form: ID208 | Molecular Diagnostics / PCR |
| Epilepsie: SCN1A-Gen | Generalisierte Epilepsie: ID040 | Molecular Diagnostics / PCR |
| Epilepsien, umfassende Diagnostik: ID061 | Epilepsien, umfassende Diagnostik: ID061 | Molecular Diagnostics / PCR |
| Epileptische Enzephalopathie | Epileptische Enzephalopathie | Molecular Diagnostics / PCR |
| Epileptische Enzephalopathien, umfassende Diagnostik: ID047 | Epileptische Enzephalopathien, umfassende Diagnostik: ID047 | Molecular Diagnostics / PCR |
| Episodische Ataxie (EA): ID184 | Episodische Ataxie (EA): ID184 | Molecular Diagnostics / PCR |
| Episodisches Schmerzsyndrom | Episodisches Schmerzsyndrom | Molecular Diagnostics / PCR |
| Epitheliom, Typ Ferguson-Smith (MSSE) | Epitheliom, Typ Ferguson-Smith (MSSE) | Molecular Diagnostics / PCR |
| Erbliche Tumorerkrankungen, umfassende Diagnostik: ID018 | Erbliche Tumorerkrankungen, umfassende Diagnostik: ID018 | Molecular Diagnostics / PCR |
| Erythrozytose (ECYT): ID138 | Erythrozytose (ECYT): ID138 | Molecular Diagnostics / PCR |
| Erythrozytose (ECYT6) | Erythrozytose (ECYT6) | Molecular Diagnostics / PCR |
| Essentieller Tremor (ETM): ID195 | Essentieller Tremor (ETM): ID195 | Molecular Diagnostics / PCR |
| FBN1 | FBN1 | Molecular Diagnostics / PCR |
| FG-Syndrom (FGS): ID215 | FG-Syndrom (FGS): ID215 | Molecular Diagnostics / PCR |
| FGFR2 | OMIM*606278, FGFR1 OMIM*136350, FGFR2 | Molecular Diagnostics / PCR |
| FGFR3 | OMIM*176943, FGFR3 | Molecular Diagnostics / PCR |
| FMR1 | FMR1 | Molecular Diagnostics / PCR |
| FS) | Klippel-Feil-Syndrom (KFS): ID207 | Molecular Diagnostics / PCR |
| Faktor V-Leiden (1691G>A) | Faktor V-Leiden (1691G>A) | Molecular Diagnostics / PCR |
| Faktor V-Mangel | Faktor-V-Mangel | Molecular Diagnostics / PCR |
| Fallot-Tetralogie (TOF): ID144 | Fallot-Tetralogie (TOF): ID144 | Molecular Diagnostics / PCR |
| Familiäre | Hypercholesterinämie, familiäre | Molecular Diagnostics / PCR |
| Familiäres Kammerflimmern (VF1) | Familiäres Kammerflimmern (VF1) | Molecular Diagnostics / PCR |
| Familiäres Mittelmeerfieber, autosomal-dominant | Familiäres Mittelmeerfieber, autosomal-dominant | Molecular Diagnostics / PCR |
| Familiäres Mittelmeerfieber, autosomal-rezessiv | Familiäres Mittelmeerfieber, autosomal-rezessiv | Molecular Diagnostics / PCR |
| Familiäres Vorhofflimmern | Familiäres Vorhofflimmern | Molecular Diagnostics / PCR |
| Familiäres Vorhofflimmern (ATFB3) | Familiäres Vorhofflimmern (ATFB3) | Molecular Diagnostics / PCR |
| Familiäres Vorhofflimmern (ATFB4) | Familiäres Vorhofflimmern (ATFB4) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANC): ID043 | Fanconi-Anämie (FANC): ID043 | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCD1) | Fanconi-Anämie (FANCD1) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCJ) | Fanconi-Anämie (FANCJ) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCN) | Fanconi-Anämie (FANCN) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCO) | Fanconi-Anämie (FANCO) | Molecular Diagnostics / PCR |
| Fanconi-Anämie (FANCS) | Fanconi-Anämie (FANCS) | Molecular Diagnostics / PCR |
| Fettstoffwechselstörung durch | Fettstoffwechselstörung durch | Molecular Diagnostics / PCR |
| Fettstoffwechselstörungen, umfassende Diagnostik: ID044 | Fettstoffwechselstörungen, umfassende Diagnostik: ID044 | Molecular Diagnostics / PCR |
| Fieberkrämpfe mit oder | Fieberkrämpfe mit oder | Molecular Diagnostics / PCR |
| Fieberkrämpfen plus | Fieberkrämpfen plus | Molecular Diagnostics / PCR |
| Fokal segmentale | Fokal segmentale | Molecular Diagnostics / PCR |
| Form (HYPT): ID146 | Form (HYPT): ID146 | Molecular Diagnostics / PCR |
| Form: ID166 | Form: ID166 | Molecular Diagnostics / PCR |
| Fragiles X-Syndrom (FraX) | Fragiles X-Syndrom (FraX) | Molecular Diagnostics / PCR |
| Fragiles X-Tremor/Ataxie-Syndrom | Fragiles X-Tremor/Ataxie-Syndrom | Molecular Diagnostics / PCR |
| Fruktoseintoleranz, hereditäre | Fruktoseintoleranz, hereditäre | Molecular Diagnostics / PCR |
| GCSH | GCSH | Molecular Diagnostics / PCR |
| GJB1 | GJB1 | Molecular Diagnostics / PCR |
| GJB2 | GJB2 | Molecular Diagnostics / PCR |
| GJB6 | GJB6 | Molecular Diagnostics / PCR |
| GLDC | GLDC | Molecular Diagnostics / PCR |
| GPIHBP1 | GPIHBP1 | Molecular Diagnostics / PCR |
| Galloway-Mowat-Syndrom | Galloway-Mowat-Syndrom | Molecular Diagnostics / PCR |
| Gardner-Syndrom (GS) | Gardner-Syndrom (GS) | Molecular Diagnostics / PCR |
| Gastrisches Adenokarzinom und proximale Polyposis des Magens (GAPPS) | Gastrisches Adenokarzinom und proximale Polyposis des Magens (GAPPS) | Molecular Diagnostics / PCR |
| Gastrointestinaler Stromatumor | Gastrointestinaler Stromatumor | Molecular Diagnostics / PCR |
| Gastrointestinaler Stromatumor (GIST) | Gastrointestinaler Stromatumor (GIST) | Molecular Diagnostics / PCR |
| Gaumenspalte (OFC): ID266 | Gaumenspalte (OFC): ID266 | Molecular Diagnostics / PCR |
| Geleophysische Dysplasie (GPHYSD2) | Geleophysische Dysplasie (GPHYSD2) | Molecular Diagnostics / PCR |
| Gilbert-Syndrom | Gilbert-Syndrom | Molecular Diagnostics / PCR |
| Glaukom (GLC): ID275 | Glaukom (GLC): ID275 | Molecular Diagnostics / PCR |
| Gliedergürtelmuskeldystrophie | Gliedergürtelmuskeldystrophie | Molecular Diagnostics / PCR |
| Glomerulonephritis: ID103 | Glomerulonephritis: ID103 | Molecular Diagnostics / PCR |
| Glycin-Enzephalopathie (GCE) | Glycin-Enzephalopathie (GCE) | Molecular Diagnostics / PCR |
| Glykogenspeicherkrankheit des | Glykogenspeicherkrankheit des | Molecular Diagnostics / PCR |
| Glykosylierung (CDG): ID035 | Glykosylierung (CDG): ID035 | Molecular Diagnostics / PCR |
| Großwuchssyndrome: ID073 | Großwuchssyndrome: ID073 | Molecular Diagnostics / PCR |
| Guillain-Barre-Syndrom (GBS) | Guillain-Barre-Syndrom (GBS) | Molecular Diagnostics / PCR |
| HBB | HBB | Molecular Diagnostics / PCR |
| HDL-Mangel: ID096 | HDL-Mangel: ID096 | Molecular Diagnostics / PCR |
| HID-Syndrom | HID-Syndrom | Molecular Diagnostics / PCR |
| HOXB13 | HOXB13 | Molecular Diagnostics / PCR |
| HTT | HTT | Molecular Diagnostics / PCR |
| Hereditäre Ataxien, umfassende Diagnostik: ID276 | Hereditäre Ataxien, umfassende Diagnostik: ID276 | Molecular Diagnostics / PCR |
| Hereditäre hämorrhagische | Hereditäre hämorrhagische | Molecular Diagnostics / PCR |
| Hereditäres Nebennierenrinden- Karzinom (ADCC) | Hereditäres Nebennierenrinden- Karzinom (ADCC) | Molecular Diagnostics / PCR |
| Hereditäres nicht polypöses | Hereditäres nicht-polypöses | Molecular Diagnostics / PCR |
| Hereditäres non-polypösen | Hereditäres non-polypösen | Molecular Diagnostics / PCR |
| Herz-Hand-Syndrom, slowenischer Typ | Herz-Hand-Syndrom, slowenischer Typ | Molecular Diagnostics / PCR |
| Herz-Hand-Syndrom: ID165 | Herz-Hand-Syndrom: ID165 | Molecular Diagnostics / PCR |
| Herzbeteiligung: ID149 | Herzbeteiligung: ID149 | Molecular Diagnostics / PCR |
| Herzens, letal kongenital (GSK) | Herzens, letal kongenital (GSK) | Molecular Diagnostics / PCR |
| Herzfehler: ID252 | Herzfehler: ID252 | Molecular Diagnostics / PCR |
| Hirntumor-Polyposis-Syndrom (BTPS2) | Hirntumor-Polyposis-Syndrom (BTPS2) | Molecular Diagnostics / PCR |
| Holoprosenzephalie (HPE): ID169 | Holoprosenzephalie (HPE): ID169 | Molecular Diagnostics / PCR |
| Homocystinurie durch MTHFR- Aktivitätsmangel (677C>T) | Homocystinurie durch MTHFR- Aktivitätsmangel (677C>T) | Molecular Diagnostics / PCR |
| Huntington-Krankheit (HD) | Huntington-Krankheit (HD) | Molecular Diagnostics / PCR |
| Hutchinson-Gilford-Progerie- Syndrom (HGPS) | Hutchinson-Gilford-Progerie- Syndrom (HGPS): LMNA, BANF1, FBN1, NARF, SPRTN, ZMPSTE24, ACD, AGPAT2, ALDH18A1, ANO6, ATM, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BLM, BRCA2, BRIP1 | Molecular Diagnostics / PCR |
| Hydrozephalus (HYC): ID221 | Hydrozephalus (HYC): ID221 | Molecular Diagnostics / PCR |
| Hyper-IgE-Syndrom (HIES): ID240 | Hyper-IgE-Syndrom (HIES): ID240 | Molecular Diagnostics / PCR |
| Hyperbilirubinämie, transiente | Hyperbilirubinämie, transiente | Molecular Diagnostics / PCR |
| Hypercholesterinämie | Hypercholesterinämie | Molecular Diagnostics / PCR |
| Hyperchylomikronämie | Hyperchylomikronämie | Molecular Diagnostics / PCR |
| Hyperekplexie (HKPX) | Hyperekplexie (HKPX): ID216 | Molecular Diagnostics / PCR |
| Hyperinsulinämische | Hyperinsulinämische | Molecular Diagnostics / PCR |
| Hyperkalzämie | Hyperkalzämie | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ IA | Hyperlipoproteinämie, Typ IA | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ IB | Hyperlipoproteinämie, Typ IB | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ ID | Hyperlipoproteinämie, Typ ID | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ III | Hyperlipoproteinämie, Typ III | Molecular Diagnostics / PCR |
| Hyperlipoproteinämie, Typ V | Hyperlipoproteinämie, Typ V | Molecular Diagnostics / PCR |
| Hypertriglyzeridämie | Hypertriglyzeridämie | Molecular Diagnostics / PCR |
| Hypertrophe Dejerine-Sottas- Neuropathie (DSS) | Hypertrophe Dejerine-Sottas- Neuropathie (DSS) | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie | Hypertrophe Kardiomyopathie | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie (CMH1) | Hypertrophe Kardiomyopathie (CMH1) | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie (CMH11) | Hypertrophe Kardiomyopathie (CMH11) | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie (CMH3) | Hypertrophe Kardiomyopathie (CMH3) | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie (CMH4) | Hypertrophe Kardiomyopathie (CMH4) | Molecular Diagnostics / PCR |
| Hypertrophe Kardiomyopathie (CMH7) | Hypertrophe Kardiomyopathie (CMH7) | Molecular Diagnostics / PCR |
| Hypobetalipoproteinämie, familiäre (FHBL1) | Hypobetalipoproteinämie, familiäre (FHBL1) | Molecular Diagnostics / PCR |
| Hypochondroplasie (HCH) | Hypochondroplasie (HCH) | Molecular Diagnostics / PCR |
| Hypoglykämie | Hypoglykämie | Molecular Diagnostics / PCR |
| Hypoglykämie, Hyperinsulinismus | Hypoglykämie, Hyperinsulinismus | Molecular Diagnostics / PCR |
| Hypoglykämie, familiäre (HHF1) | Hypoglykämie, familiäre (HHF1) | Molecular Diagnostics / PCR |
| Hypoglykämie, familiäre (HHF2) | Hypoglykämie, familiäre (HHF2) | Molecular Diagnostics / PCR |
| Hypogonadismus mit oder ohne | Hypogonadismus mit oder ohne | Molecular Diagnostics / PCR |
| Hypogonadotroper | hypogonadotroper | Molecular Diagnostics / PCR |
| Hypomyelinisierende | Hypomyelinisierende | Molecular Diagnostics / PCR |
| Hypophosphatämische Rachitis | hypophosphatämische Rachitis | Molecular Diagnostics / PCR |
| Hypospadie, X-chromosomal (HYSP1) | Hypospadie, X-chromosomal (HYSP1) | Molecular Diagnostics / PCR |
| Hypotrichose, nicht-syndromale | Hypotrichose, nicht-syndromale | Molecular Diagnostics / PCR |
| Hämaturie, benigne familiäre (BFH) | Hämaturie, benigne familiäre (BFH) | Molecular Diagnostics / PCR |
| Hämogloin-F-Persistenz, hereditäre (HPFH) | Hämogloin-F-Persistenz, hereditäre (HPFH) | Molecular Diagnostics / PCR |
| Hämophilie | Hämophilie: ID154 | Molecular Diagnostics / PCR |
| ID005 | ID005 | Molecular Diagnostics / PCR |
| ID009 | ID009 | Molecular Diagnostics / PCR |
| ID011 | ID011 | Molecular Diagnostics / PCR |
| ID012 | ID012 | Molecular Diagnostics / PCR |
| ID017 | ID017 | Molecular Diagnostics / PCR |
| ID025 | ID025 | Molecular Diagnostics / PCR |
| ID029 | ID029 | Molecular Diagnostics / PCR |
| ID036 | ID036 | Molecular Diagnostics / PCR |
| ID038 | ID038 | Molecular Diagnostics / PCR |
| ID049 | ID049 | Molecular Diagnostics / PCR |
| ID054 | ID054 | Molecular Diagnostics / PCR |
| ID056 | ID056 | Molecular Diagnostics / PCR |
| ID057 | ID057 | Molecular Diagnostics / PCR |
| ID058 | ID058 | Molecular Diagnostics / PCR |
| ID064 | ID064 | Molecular Diagnostics / PCR |
| ID066 | ID066 | Molecular Diagnostics / PCR |
| ID067 | ID067 | Molecular Diagnostics / PCR |
| ID076 | ID076 | Molecular Diagnostics / PCR |
| ID077 | ID077 | Molecular Diagnostics / PCR |
| ID082 | ID082 | Molecular Diagnostics / PCR |
| ID083 | ID083 | Molecular Diagnostics / PCR |
| ID085 | ID085 | Molecular Diagnostics / PCR |
| ID091 | ID091 | Molecular Diagnostics / PCR |
| ID093 | ID093 | Molecular Diagnostics / PCR |
| ID097 | ID097 | Molecular Diagnostics / PCR |
| ID100 | ID100 | Molecular Diagnostics / PCR |
| ID106 | ID106 | Molecular Diagnostics / PCR |
| ID108 | ID108 | Molecular Diagnostics / PCR |
| ID117 | ID117 | Molecular Diagnostics / PCR |
| ID119 | ID119 | Molecular Diagnostics / PCR |
| ID120 | ID120 | Molecular Diagnostics / PCR |
| ID142 | ID142 | Molecular Diagnostics / PCR |
| ID148 | ID148 | Molecular Diagnostics / PCR |
| ID151 | ID151 | Molecular Diagnostics / PCR |
| ID159 | ID159 | Molecular Diagnostics / PCR |
| ID162 | ID162 | Molecular Diagnostics / PCR |
| ID185 | ID185 | Molecular Diagnostics / PCR |
| ID212 | ID212 | Molecular Diagnostics / PCR |
| ID222 | ID222 | Molecular Diagnostics / PCR |
| ID225 | ID225 | Molecular Diagnostics / PCR |
| ID236 | ID236 | Molecular Diagnostics / PCR |
| ID249 | ID249 | Molecular Diagnostics / PCR |
| ID256 | ID256 | Molecular Diagnostics / PCR |
| ID259 | ID259 | Molecular Diagnostics / PCR |
| ID261 | ID261 | Molecular Diagnostics / PCR |
| ID265 | ID265 | Molecular Diagnostics / PCR |
| ID270 | ID270 | Molecular Diagnostics / PCR |
| ID271 | ID271 | Molecular Diagnostics / PCR |
| ID279 | ID279 | Molecular Diagnostics / PCR |
| ID282 | ID282 | Molecular Diagnostics / PCR |
| IVD | IVD | Molecular Diagnostics / PCR |
| Ichthyose: ID217 | Ichthyose: ID217 | Molecular Diagnostics / PCR |
| Immunschwäche (IMD34) | Immunschwäche (IMD34) | Molecular Diagnostics / PCR |
| Insuffizienz und roten Haaren (OBAIRH) | Insuffizienz und roten Haaren (OBAIRH) | Molecular Diagnostics / PCR |
| Isolierter Wachstumshormon- Mangel, Typ III, mit Agammaglobilinämie (IGHD3) | Isolierter Wachstumshormon- Mangel, Typ III, mit Agammaglobilinämie (IGHD3) | Molecular Diagnostics / PCR |
| Isovalerianazidämie (IVA) | Isovalerianazidämie (IVA) | Molecular Diagnostics / PCR |
| Jackson-Weiss-Syndrom (JWS) | Jackson-Weiss-Syndrom (JWS) | Molecular Diagnostics / PCR |
| Jervell- und Lange-Nielsen- Syndrom (JLNS1) | Jervell- und Lange-Nielsen- Syndrom (JLNS1) | Molecular Diagnostics / PCR |
| Jervell- und Lange-Nielsen- Syndrom (JLNS2) | Jervell- und Lange-Nielsen- Syndrom (JLNS2) | Molecular Diagnostics / PCR |
| Joubert-Syndrom (JBTS): ID028 | Joubert-Syndrom (JBTS): ID028 | Molecular Diagnostics / PCR |
| KID-Syndrom (KIDAD) | KID-Syndrom (KIDAD) | Molecular Diagnostics / PCR |
| KRAS | KRAS | Molecular Diagnostics / PCR |
| Kabuki-Syndrom (KABUK): ID127 | Kabuki-Syndrom (KABUK): ID127 | Molecular Diagnostics / PCR |
| Kardio-fazio-kutanes Syndrom | Kardiofaziokutanes Syndrom | Molecular Diagnostics / PCR |
| Kardiomyopathien, umfassende Diagnostik: ID027 | Kardiomyopathien, umfassende Diagnostik: ID027 | Molecular Diagnostics / PCR |
| Kartagener-Syndrom | Kartagener-Syndrom | Molecular Diagnostics / PCR |
| Karzinom | Lungenkarzinom: EGF-Rezeptor | Molecular Diagnostics / PCR |
| Katarakt (CTRCT): ID206 | Katarakt (CTRCT): ID206 | Molecular Diagnostics / PCR |
| Katecholaminerge Polymorphe | Katecholaminerge polymorphe | Molecular Diagnostics / PCR |
| Kindesalters (AHC1) | Kindesalters (AHC1) | Molecular Diagnostics / PCR |
| Kleinwuchs, idiopathischer, X-chromosomal (ISS) | Kleinwuchs, idiopathischer, X-chromosomal (ISS) | Molecular Diagnostics / PCR |
| Knochenmarkinsuffizienz (BMFS5) | Knochenmarkinsuffizienz (BMFS5) | Molecular Diagnostics / PCR |
| Kolorektales Karzinom | Kolorektales Karzinom | Molecular Diagnostics / PCR |
| Kolorektales Karzinom (CRC) | Kolorektales Karzinom (CRC) | Molecular Diagnostics / PCR |
| Kolorektales Karzinom, umfassende Diagnostik: ID285 | Kolorektales Karzinom, umfassende Diagnostik: ID285 | Molecular Diagnostics / PCR |
| Kombinierte Hyperlipidämie, familiäre (FCHL3) | Kombinierte Hyperlipidämie, familiäre (FCHL3) | Molecular Diagnostics / PCR |
| Kombinierter Defekt der | Kombinierter Defekt der | Molecular Diagnostics / PCR |
| Kombinierter Lipasemangel | Kombinierter Lipasemangel | Molecular Diagnostics / PCR |
| Komplexe I bis V (MCDN): ID074 | Komplexe I bis V (MCDN): ID074 | Molecular Diagnostics / PCR |
| Kongenitale Anomalien der | Kongenitale Anomalien der | Molecular Diagnostics / PCR |
| Kongenitale Herzfehler, umfassende Diagnostik: ID019 | Kongenitale Herzfehler, umfassende Diagnostik: ID019 | Molecular Diagnostics / PCR |
| Kongenitale Muskeldystrophie (MDCL) | Kongenitale Muskeldystrophie (MDCL) | Molecular Diagnostics / PCR |
| Kongenitale Störung der | Kongenitale Störung der | Molecular Diagnostics / PCR |
| Kongenitale adrenale Hyperplasie | Kongenitale adrenale Hyperplasie | Molecular Diagnostics / PCR |
| Kongenitale bilaterale Aplasie | Kongenitale bilaterale Aplasie | Molecular Diagnostics / PCR |
| Kongenitale extraokuläre | Kongenitale extraokuläre | Molecular Diagnostics / PCR |
| Kongenitale stationäre | Kongenitale stationäre | Molecular Diagnostics / PCR |
| Kongenitale syndromale | Kongenitale syndromale | Molecular Diagnostics / PCR |
| Kongenitales Myasthenes | Kongenitales myasthenes | Molecular Diagnostics / PCR |
| Kongenitales zentrales | Kongenitales zentrales | Molecular Diagnostics / PCR |
| Konotrunkale Herzfehlbildung | Konotrunkale Herzfehlbildung | Molecular Diagnostics / PCR |
| Kontamination (AMK) | Kontamination (AMK) | Molecular Diagnostics / PCR |
| Kontraktursyndrom (LCCS): ID197 | Kontraktursyndrom (LCCS): ID197 | Molecular Diagnostics / PCR |
| Kortikale Dysplasie mit weiteren | Kortikale Dysplasie mit weiteren | Molecular Diagnostics / PCR |
| Krampfanfälle (BFNS, BFIS): ID134 | Krampfanfälle (BFNS, BFIS): ID134 | Molecular Diagnostics / PCR |
| Kraniosynostose (CRS): ID224 | Kraniosynostose (CRS): ID224 | Molecular Diagnostics / PCR |
| Kutanes malignes Melanom | Kutanes malignes Melanom | Molecular Diagnostics / PCR |
| LADD-Syndrom (LADD) | LADD-Syndrom (LADD) | Molecular Diagnostics / PCR |
| LDL-Mangel: ID094 | LDL-Mangel: ID094 | Molecular Diagnostics / PCR |
| LDLR | LDLR | Molecular Diagnostics / PCR |
| LEOPARD-Syndrom (LPRD1) | LEOPARD-Syndrom (LPRD1) | Molecular Diagnostics / PCR |
| LEOPARD-Syndrom (LPRD2) | LEOPARD-Syndrom (LPRD2) | Molecular Diagnostics / PCR |
| LEOPARD-Syndrom (LPRD3) | LEOPARD-Syndrom (LPRD3) | Molecular Diagnostics / PCR |
| LMF1 | LMF1 | Molecular Diagnostics / PCR |
| LMNA | LMNA | Molecular Diagnostics / PCR |
| LPL | LPL: alle Exone und die flankierenden Sequenzen und ein | Molecular Diagnostics / PCR |
| Laktose-Intoleranz, adulter Typ | Laktose-Intoleranz, adulter Typ | Molecular Diagnostics / PCR |
| Langer mesomele Dysplasie (LMD) | Langer mesomele Dysplasie (LMD) | Molecular Diagnostics / PCR |
| Lebersche kongenitale Amaurose | Lebersche kongenitale Amaurose | Molecular Diagnostics / PCR |
| Leri-Weill-Dyschondrosteose (LWD) | Leri-Weill-Dyschondrosteose (LWD) | Molecular Diagnostics / PCR |
| Letales kongenitales | Letales kongenitales | Molecular Diagnostics / PCR |
| Leukodystrophie (HLD): ID277 | Leukodystrophie (HLD): ID277 | Molecular Diagnostics / PCR |
| Leukoenzephalopathien, umfassende Diagnostik: ID204 | Leukoenzephalopathien, umfassende Diagnostik: ID204 | Molecular Diagnostics / PCR |
| Leukämie, juvenile | Leukämie, juvenile | Molecular Diagnostics / PCR |
| Lhermitte-Duclos-Syndrom (LDD) | Lhermitte-Duclos-Syndrom (LDD) | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom (LFS) | Li-Fraumeni-Syndrom (LFS) | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom (LFS2) | Li-Fraumeni-Syndrom (LFS2) | Molecular Diagnostics / PCR |
| Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC10) | Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC10) | Molecular Diagnostics / PCR |
| Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC4) | Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC4) | Molecular Diagnostics / PCR |
| Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC5) | Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC5) | Molecular Diagnostics / PCR |
| Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC9) | Linksventrikuläre Non- Compaction-Kardiomyopathie (LVNC9) | Molecular Diagnostics / PCR |
| Lipodystrophie, familiäre | Lipodystrophie, familiäre | Molecular Diagnostics / PCR |
| Lipodystrophie: ID055 | Lipodystrophie: ID055 | Molecular Diagnostics / PCR |
| Lipoprotein(a)-Erhöhung | Lipoprotein(a)-Erhöhung | Molecular Diagnostics / PCR |
| Lipoprotein-Glomerulopathie (LPG) | Lipoprotein-Glomerulopathie (LPG) | Molecular Diagnostics / PCR |
| Lissenzephalie (LIS): ID133 | Lissenzephalie (LIS): ID133 | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS1) | Loeys-Dietz-Syndrom (LDS1) | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS2) | Loeys-Dietz-Syndrom (LDS2) | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS3) | Loeys-Dietz-Syndrom (LDS3) | Molecular Diagnostics / PCR |
| Loeys-Dietz-Syndrom (LDS4) | Loeys-Dietz-Syndrom (LDS4) | Molecular Diagnostics / PCR |
| Long QT-Syndrom (LQT): ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, CACNA1C, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Long QT-Syndrom (LQT): ANK2, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, CACNA1C, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT1) | Long-QT-Syndrom (LQT1) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT2) | Long-QT-Syndrom (LQT2) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT3) | Long-QT-Syndrom (LQT3) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT5) | Long-QT-Syndrom (LQT5) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT6) | Long-QT-Syndrom (LQT6) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (LQT8) | Long-QT-Syndrom (LQT8) | Molecular Diagnostics / PCR |
| Lopes-Maciel-Rodan-Syndrom (LOMARS) | Lopes-Maciel-Rodan-Syndrom (LOMARS) | Molecular Diagnostics / PCR |
| Lynch-Syndrom (HNPCC) | Lynch-Syndrom (HNPCC): ID002 | Molecular Diagnostics / PCR |
| M2) | Prädisposition für Gliom (GLM2) | Molecular Diagnostics / PCR |
| MASS-Syndrom | MASS-Syndrom | Molecular Diagnostics / PCR |
| MCM6 (LCT enhancer) | MCM6 (LCT enhancer) | Molecular Diagnostics / PCR |
| MEFV | MEFV | Molecular Diagnostics / PCR |
| MFN2 | MFN2 | Molecular Diagnostics / PCR |
| MLH1 | MLH1 | Molecular Diagnostics / PCR |
| MODY-Diabetes | MODY-Diabetes | Molecular Diagnostics / PCR |
| MODY-Diabetes (MODY13) | MODY-Diabetes (MODY13) | Molecular Diagnostics / PCR |
| MPZ | MPZ | Molecular Diagnostics / PCR |
| MSH2 | MSH2 | Molecular Diagnostics / PCR |
| MSH6 | MSH6 | Molecular Diagnostics / PCR |
| MTHFR | MTHFR | Molecular Diagnostics / PCR |
| MUTYH | MUTYH | Molecular Diagnostics / PCR |
| Magenkarzinom | Magenkarzinom: CDH1, ATM, BMPR1A, CHEK2, MLH1, MSH2, MSH6, PMS2, STK11, TP53, CTNNA1, EPCAM, PDGFRA | Molecular Diagnostics / PCR |
| Magenkarzinom, hereditäres | Magenkarzinom, hereditäres | Molecular Diagnostics / PCR |
| Makrozephalie | Makrozephalie | Molecular Diagnostics / PCR |
| Makrozephalie, umfassende Diagnostik: ID070 | Makrozephalie, umfassende Diagnostik: ID070 | Molecular Diagnostics / PCR |
| Makrozephalie/Autismus- Syndrom | Makrozephalie/Autismus- Syndrom | Molecular Diagnostics / PCR |
| Makuladegeneration | Makuladegeneration | Molecular Diagnostics / PCR |
| Makuladystrophie (MD): ID139 | Makuladystrophie (MD): ID139 | Molecular Diagnostics / PCR |
| Malouf-Syndrom | Malouf-Syndrom | Molecular Diagnostics / PCR |
| Mamma- und Ovarialkarzinom | Mamma- und Ovarialkarzinom | Molecular Diagnostics / PCR |
| Mamma- und Ovarialkarzinom - BRCA1/BRCA2: ID001 | Mamma- und Ovarialkarzinom - BRCA1/BRCA2: ID001 | Molecular Diagnostics / PCR |
| Mamma- und Ovarialkarzinom, umfassende Diagnostik: ID068 | Mamma- und Ovarialkarzinom, umfassende Diagnostik: ID068 | Molecular Diagnostics / PCR |
| Mammakarzinom: ID021 | Mammakarzinom: ID021 | Molecular Diagnostics / PCR |
| Mandibuloakrale Dysplasie (MADA) | Mandibuloakrale Dysplasie (MADA) | Molecular Diagnostics / PCR |
| Mandibulofaziale Dysostose | Mandibulofaziale Dysostose | Molecular Diagnostics / PCR |
| Marfan-Lipodystrophie-Syndrom (MFLS) | Marfan-Lipodystrophie-Syndrom (MFLS) | Molecular Diagnostics / PCR |
| Marfan-Syndrom (MFS) | Marfan-Syndrom (MFS) | Molecular Diagnostics / PCR |
| Marfan-Syndrom (MFS) - EBM 11444/11445: ID022 | Marfan-Syndrom (MFS) - EBM 11444/11445: ID022 | Molecular Diagnostics / PCR |
| Meckel-Syndrom (MKS): CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, B9D1, B9D2, KIF14, TCTN2, TMEM67, TMEM231 | Meckel-Syndrom (MKS): CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, B9D1, B9D2, KIF14, TCTN2, TMEM67, TMEM231 | Molecular Diagnostics / PCR |
| Medulloblastom (MDB) | Medulloblastom (MDB) | Molecular Diagnostics / PCR |
| Medulloblastom: ID205 | Medulloblastom: ID205 | Molecular Diagnostics / PCR |
| Mentale Retardierung, autosomal-rezessiv (MRT): ID037 | Mentale Retardierung, autosomal-rezessiv (MRT): ID037 | Molecular Diagnostics / PCR |
| Metachondromatose (METCD1) | Metachondromatose (METCD1) | Molecular Diagnostics / PCR |
| Migräne (MGR): ID065 | Migräne (MGR): ID065 | Molecular Diagnostics / PCR |
| Migräne, familiäre hemiplegische | Migräne, familiäre hemiplegische | Molecular Diagnostics / PCR |
| Migräne, familiäre hemiplegische (FHM1) | Migräne, familiäre hemiplegische (FHM1) | Molecular Diagnostics / PCR |
| Mikrosatelliteninstabilität | Mikrosatelliteninstabilität | Molecular Diagnostics / PCR |
| Mikrozephalie | Mikrozephalie | Molecular Diagnostics / PCR |
| Mikrozephalie, umfassende Diagnostik: ID069 | Mikrozephalie, umfassende Diagnostik: ID069 | Molecular Diagnostics / PCR |
| Mismatch-Reparatur- Krebssyndrom (MMRCS1) | Mismatch-Reparatur- Krebssyndrom (MMRCS1) | Molecular Diagnostics / PCR |
| Mismatch-Reparatur- Krebssyndrom (MMRCS2) | Mismatch-Reparatur- Krebssyndrom (MMRCS2) | Molecular Diagnostics / PCR |
| Mismatch-Reparatur- Krebssyndrom (MMRCS3) | Mismatch-Reparatur- Krebssyndrom (MMRCS3) | Molecular Diagnostics / PCR |
| Mismatch-Reparatur- Krebssyndrom (MMRCS4) | Mismatch-Reparatur- Krebssyndrom (MMRCS4) | Molecular Diagnostics / PCR |
| Mitochondrialer Komplex-II- Mangel, kernkodierter Typ (MC2DN1) | Mitochondrialer Komplex-II- Mangel, kernkodierter Typ (MC2DN1) | Molecular Diagnostics / PCR |
| Mitochondrialer Komplex-II- Mangel, kernkodierter Typ (MC2DN3) | Mitochondrialer Komplex-II- Mangel, kernkodierter Typ (MC2DN3) | Molecular Diagnostics / PCR |
| Mitochondrialer Komplex-II- Mangel, kernkodierter Typ (MC2DN4) | Mitochondrialer Komplex-II- Mangel, kernkodierter Typ (MC2DN4) | Molecular Diagnostics / PCR |
| Molekulare Karyotypisierung | Molekulare Karyotypisierung | Molecular Diagnostics / PCR |
| Morbus Meulengracht UGT1A1 | Morbus Meulengracht UGT1A1 | Molecular Diagnostics / PCR |
| Morbus Stargardt (STGD): ID102 | Morbus Stargardt (STGD): ID102 | Molecular Diagnostics / PCR |
| Moyamoya-Erkrankung (MYMY5) | Moyamoya-Erkrankung (MYMY5) | Molecular Diagnostics / PCR |
| Muenke-Syndrom (MNKES) | Muenke-Syndrom (MNKES) | Molecular Diagnostics / PCR |
| Muir-Torre-Syndrom (MRTES) | Muir-Torre-Syndrom (MRTES) | Molecular Diagnostics / PCR |
| Multiple epiphysäre Dysplasie | Multiple epiphysäre Dysplasie | Molecular Diagnostics / PCR |
| Multisystemische Dysfunktion der glatten Muskeln (MSMDS) | Multisystemische Dysfunktion der glatten Muskeln (MSMDS) | Molecular Diagnostics / PCR |
| Muskelfibrose (CFEOM): ID063 | Muskelfibrose (CFEOM): ID063 | Molecular Diagnostics / PCR |
| Myopie (MYP): ID079 | Myopie (MYP): ID079 | Molecular Diagnostics / PCR |
| Myosin-Speicher-Myopathie, autosomal-dominant (MSMA) | Myosin-Speicher-Myopathie, autosomal-dominant (MSMA) | Molecular Diagnostics / PCR |
| Myosin-Speicher-Myopathie, autosomal-dominant (MSMB) | Myosin-Speicher-Myopathie, autosomal-dominant (MSMB) | Molecular Diagnostics / PCR |
| Myotonie: ID255 | Myotonie: ID255 | Molecular Diagnostics / PCR |
| Müller-Gang-Persistenzsyndrom, Typ I (PMDS) | Müller-Gang-Persistenzsyndrom, Typ I (PMDS) | Molecular Diagnostics / PCR |
| Müller-Gang-Persistenzsyndrom, Typ II (PMDS) | Müller-Gang-Persistenzsyndrom, Typ II (PMDS) | Molecular Diagnostics / PCR |
| NF1 | NF1 | Molecular Diagnostics / PCR |
| Nachtblindheit (CSNB): ID267 | Nachtblindheit (CSNB): ID267 | Molecular Diagnostics / PCR |
| Nemalin-Myopathie (NEM): ID199 | Nemalin-Myopathie (NEM): ID199 | Molecular Diagnostics / PCR |
| Nephrogenes Syndrom mit unverhältnismäßiger Antidiurese (NSIAD) | Nephrogenes Syndrom mit unverhältnismäßiger Antidiurese (NSIAD) | Molecular Diagnostics / PCR |
| Nephrokalzinose: ID231 | Nephrokalzinose: ID231 | Molecular Diagnostics / PCR |
| Nephronophthise (NPHP) | Nephronophthise (NPHP): ID030 | Molecular Diagnostics / PCR |
| Nephrotisches Syndrom (SRNS, NPHS): ID098 | Nephrotisches Syndrom (SRNS, NPHS): ID098 | Molecular Diagnostics / PCR |
| Neurofibromatose (NF): ID210 | Neurofibromatose (NF): ID210 | Molecular Diagnostics / PCR |
| Neurofibromatose (NF1) | Neurofibromatose (NF1) | Molecular Diagnostics / PCR |
| Neurofibromatose, familiäre | Neurofibromatose, familiäre | Molecular Diagnostics / PCR |
| Neurofibromatose-Noonan- Syndrom (NFNS) | Neurofibromatose-Noonan- Syndrom (NFNS) | Molecular Diagnostics / PCR |
| Neuromuskuläre Erkrankungen | Neuromuskuläre Erkrankungen | Molecular Diagnostics / PCR |
| Neuronale Ceroid-Lipofuszinose | Neuronale Ceroid-Lipofuszinose | Molecular Diagnostics / PCR |
| Neuronale Migrationsstörungen, umfassende Diagnostik: ID180 | Neuronale Migrationsstörungen, umfassende Diagnostik: ID180 | Molecular Diagnostics / PCR |
| Neuropathie | Sensorisch-autonome Neuropathie | Molecular Diagnostics / PCR |
| Neuropathie, hereditäre, mit Neigung zu Drucklähmungen (HNPP) | Neuropathie, hereditäre, mit Neigung zu Drucklähmungen (HNPP) | Molecular Diagnostics / PCR |
| Neuropathie, kongenitale (CHN2) | Neuropathie, kongenitale (CHN2) | Molecular Diagnostics / PCR |
| Neutropenie | Neutropenie | Molecular Diagnostics / PCR |
| Neutrophile Dermatose, akute | Neutrophile Dermatose, akute | Molecular Diagnostics / PCR |
| Nicht-syndromale Schwerhörigkeit, autosomal-rezessiv (DFNB): ID092 | Nicht-syndromale Schwerhörigkeit, autosomal-rezessiv (DFNB): ID092 | Molecular Diagnostics / PCR |
| Nicht-syndromale Schwerhörigkeit, umfassende Diagnostik: ID237 | Nicht-syndromale Schwerhörigkeit, umfassende Diagnostik: ID237 | Molecular Diagnostics / PCR |
| Niere und des Harntraktes | Niere und des Harntraktes | Molecular Diagnostics / PCR |
| Nierenzellkarzinom: BAP1, DICER1, EPCAM, FH, FLCN, MET, PALB2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TSC1, TSC2, VHL | Nierenzellkarzinom: BAP1, DICER1, EPCAM, FH, FLCN, MET, PALB2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, TSC1, TSC2, VHL | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS): ID023 | Noonan-Syndrom (NS): ID023 | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS1) | Noonan-Syndrom (NS1) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS3) | Noonan-Syndrom (NS3) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS4) | Noonan-Syndrom (NS4) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS5) | Noonan-Syndrom (NS5) | Molecular Diagnostics / PCR |
| Noonan-Syndrom (NS7) | Noonan-Syndrom (NS7) | Molecular Diagnostics / PCR |
| OCLN | OCLN | Molecular Diagnostics / PCR |
| OIEDS-Syndrom (OIEDS1) | OIEDS-Syndrom (OIEDS1) | Molecular Diagnostics / PCR |
| OIEDS-Syndrom (OIEDS2) | OIEDS-Syndrom (OIEDS2) | Molecular Diagnostics / PCR |
| OMIM*164790, PIK3CA | OMIM*164790, PIK3CA | Molecular Diagnostics / PCR |
| Optikusatrophie (OPA): ID081 | Optikusatrophie (OPA): ID081 | Molecular Diagnostics / PCR |
| Osteogenesis imperfecta (OI) | Osteogenesis imperfecta (OI) | Molecular Diagnostics / PCR |
| Osteoporose | Osteoporose | Molecular Diagnostics / PCR |
| Osteosarkom | Osteosarkom: ID223 | Molecular Diagnostics / PCR |
| Ovarialkarzinom | Ovarialkarzinom: ID004 | Molecular Diagnostics / PCR |
| PCSK9 | PCSK9: alle Exone und die | Molecular Diagnostics / PCR |
| PMP22 | PMP22 | Molecular Diagnostics / PCR |
| PMS2 | PMS2 | Molecular Diagnostics / PCR |
| POMC | POMC | Molecular Diagnostics / PCR |
| PRSS1 | PRSS1 | Molecular Diagnostics / PCR |
| PTEN | PTEN | Molecular Diagnostics / PCR |
| PTEN, SEC23B | PTEN, SEC23B | Molecular Diagnostics / PCR |
| PWS-Chromosomenregion | PWS-Chromosomenregion | Molecular Diagnostics / PCR |
| Palmoplantarkeratose mit Schwerhörigkeit | Palmoplantarkeratose mit Schwerhörigkeit | Molecular Diagnostics / PCR |
| Pankreaskarzinom | Pankreaskarzinom: ID089 | Molecular Diagnostics / PCR |
| Pankreaskarzinom, umfassende Diagnostik: ID284 | Pankreaskarzinom, umfassende Diagnostik: ID284 | Molecular Diagnostics / PCR |
| Pankreatitis (PCTT): ID141 | Pankreatitis (PCTT): ID141 | Molecular Diagnostics / PCR |
| Pankreatitis (TCP) | Pankreatitis (TCP) | Molecular Diagnostics / PCR |
| Pankreatitis, hereditäre (PCTT) | Pankreatitis, hereditäre (PCTT) | Molecular Diagnostics / PCR |
| Paragangliom (PGL1) | Paragangliom (PGL1) | Molecular Diagnostics / PCR |
| Paragangliom (PGL4) | Paragangliom (PGL4) | Molecular Diagnostics / PCR |
| Paragangliom (PGL5) | Paragangliom (PGL5) | Molecular Diagnostics / PCR |
| Paragangliom und gastrisches | Paragangliom und gastrisches | Molecular Diagnostics / PCR |
| Paroxysmale Dyskinesie | Paroxysmale Dyskinesie: ID286 | Molecular Diagnostics / PCR |
| Periodische Paralyse: ID253 | Periodische Paralyse: ID253 | Molecular Diagnostics / PCR |
| Periodisches Fiebersyndrom | Periodisches Fiebersyndrom | Molecular Diagnostics / PCR |
| Pfeiffer-Syndrom | Pfeiffer-Syndrom | Molecular Diagnostics / PCR |
| Phäochromozytom | Phäochromozytom | Molecular Diagnostics / PCR |
| Plexus choroideus-Papillom | Plexus choroideus-Papillom | Molecular Diagnostics / PCR |
| Polydaktylie, nicht-syndromale | Polydaktylie, nicht-syndromale | Molecular Diagnostics / PCR |
| Polymikrogyrie | Polymikrogyrie | Molecular Diagnostics / PCR |
| Pontozerebelläre Hypoplasie | Pontozerebelläre Hypoplasie | Molecular Diagnostics / PCR |
| Porphyrie | Porphyrie | Molecular Diagnostics / PCR |
| Primäre Mikrozephalie, autosomal-rezessiv (MCPH): ID031 | Primäre Mikrozephalie, autosomal-rezessiv (MCPH): ID031 | Molecular Diagnostics / PCR |
| Primäre Ziliendyskinesie (CILD1) | Primäre Ziliendyskinesie (CILD1) | Molecular Diagnostics / PCR |
| Primäre Ziliendyskinesie (CILD3) | Primäre Ziliendyskinesie (CILD3) | Molecular Diagnostics / PCR |
| Primäre Ziliendyskinesie mit oder | Primäre Ziliendyskinesie mit oder | Molecular Diagnostics / PCR |
| Progeroide Syndrome: ID147 | Progeroide Syndrome: ID147 | Molecular Diagnostics / PCR |
| Prostatakarzinom | Prostatakarzinom: BRCA1, BRCA2, CHEK2, MSR1, RNASEL, HOXB13, PALB2, RAD51D | Molecular Diagnostics / PCR |
| Proteus-Syndrom | Proteus-Syndrom: AKT1 | Molecular Diagnostics / PCR |
| Prothrombin-Mangel, kongenitaler | Prothrombin-Mangel, kongenitaler | Molecular Diagnostics / PCR |
| Prädisposition für Basalzellenkrebs (BCC7) | Prädisposition für Basalzellenkrebs (BCC7) | Molecular Diagnostics / PCR |
| Prädisposition für Brust- und Eierstockkrebs (BROVCA1) | Prädisposition für Brust- und Eierstockkrebs (BROVCA1) | Molecular Diagnostics / PCR |
| Prädisposition für Brust- und Eierstockkrebs (BROVCA2) | Prädisposition für Brust- und Eierstockkrebs (BROVCA2) | Molecular Diagnostics / PCR |
| Prädisposition für Brust- und Eierstockkrebs (BROVCA3) | Prädisposition für Brust- und Eierstockkrebs (BROVCA3) | Molecular Diagnostics / PCR |
| Prädisposition für Brust- und Eierstockkrebs (BROVCA4) | Prädisposition für Brust- und Eierstockkrebs (BROVCA4) | Molecular Diagnostics / PCR |
| Prädisposition für Gebärmutterkrebs | Prädisposition für Gebärmutterkrebs | Molecular Diagnostics / PCR |
| Prädisposition für Gliom (GLM3) | Prädisposition für Gliom (GLM3) | Molecular Diagnostics / PCR |
| Prädisposition für Ischämischen Schlaganfall (ICH) | Prädisposition für Ischämischen Schlaganfall (ICH) | Molecular Diagnostics / PCR |
| Prädisposition für Pankreaskarzinom (PNCA2) | Prädisposition für Pankreaskarzinom (PNCA2) | Molecular Diagnostics / PCR |
| Prädisposition für Pankreaskarzinom (PNCA3) | Prädisposition für Pankreaskarzinom (PNCA3) | Molecular Diagnostics / PCR |
| Prädisposition für Pankreaskarzinom (PNCA4) | Prädisposition für Pankreaskarzinom (PNCA4) | Molecular Diagnostics / PCR |
| Prädisposition für Plötzlichen Kindtod (SIDS) | Prädisposition für Plötzlichen Kindtod (SIDS) | Molecular Diagnostics / PCR |
| Prädisposition für Prostatakrebs | Prädisposition für Prostatakrebs | Molecular Diagnostics / PCR |
| Prädisposition für rezidivierenden | Prädisposition für rezidivierenden | Molecular Diagnostics / PCR |
| Prädispostion für Gliom (GLM1) | Prädispostion für Gliom (GLM1) | Molecular Diagnostics / PCR |
| Pränataler PCR-Schnelltest (Aneuploidie 13, 18, 21, X, Y) | Pränataler PCR-Schnelltest (Aneuploidie 13, 18, 21, X, Y) | Molecular Diagnostics / PCR |
| Pseudo-TORCH-Syndrom | Pseudo-TORCH-Syndrom | Molecular Diagnostics / PCR |
| Pseudohypoaldosteronismus | Pseudohypoaldosteronismus | Molecular Diagnostics / PCR |
| Pseudoxanthoma elasticum (PXE) | Pseudoxanthoma elasticum (PXE) | Molecular Diagnostics / PCR |
| Pulmonale arterielle Hypertonie | Pulmonale arterielle Hypertonie | Molecular Diagnostics / PCR |
| RAD51D | RAD51D | Molecular Diagnostics / PCR |
| RAF1 | RAF1 | Molecular Diagnostics / PCR |
| RAS-assoziiertes Autoimmunes | RAS-assoziiertes Autoimmunes | Molecular Diagnostics / PCR |
| RASopathien | RASopathien: ID015 | Molecular Diagnostics / PCR |
| Restriktive Kardiomyopathie | Restriktive Kardiomyopathie | Molecular Diagnostics / PCR |
| Restriktive Kardiomyopathie (RCM1) | Restriktive Kardiomyopathie (RCM1) | Molecular Diagnostics / PCR |
| Retinitis pigmentosa (RP), autosomal-dominant: ID053 | Retinitis pigmentosa (RP), autosomal-dominant: ID053 | Molecular Diagnostics / PCR |
| Retinitis pigmentosa (RP), autosomal-rezessiv: ID050 | Retinitis pigmentosa (RP), autosomal-rezessiv: ID050 | Molecular Diagnostics / PCR |
| Retinitis pigmentosa (RP), umfassende Diagnostik: ID288 | Retinitis pigmentosa (RP), umfassende Diagnostik: ID288 | Molecular Diagnostics / PCR |
| Roussy-Levy-Syndrom | Roussy-Levy-Syndrom | Molecular Diagnostics / PCR |
| SDHA | SDHA | Molecular Diagnostics / PCR |
| SDHB | SDHB | Molecular Diagnostics / PCR |
| SDHD | SDHD | Molecular Diagnostics / PCR |
| SHOX | SHOX | Molecular Diagnostics / PCR |
| SMA | Thorakales Aortenaneurysma | Molecular Diagnostics / PCR |
| SMAD3 | SMAD3 | Molecular Diagnostics / PCR |
| SOS1 | SOS1 | Molecular Diagnostics / PCR |
| SPINK1 | SPINK1 | Molecular Diagnostics / PCR |
| STR13-, STR18-, STR21-, STRX-, STRY-Markeranalyse | STR13-, STR18-, STR21-, STRX-, STRY-Markeranalyse | Molecular Diagnostics / PCR |
| STR7-, STR11-, STR14-, STR15- Markeranalyse | STR7-, STR11-, STR14-, STR15- Markeranalyse | Molecular Diagnostics / PCR |
| Saethre-Chotzen-Syndrome (SCS) | Saethre-Chotzen-Syndrome (SCS) | Molecular Diagnostics / PCR |
| Scapuloperoneale Myopathie (SPMM) | Scapuloperoneale Myopathie (SPMM) | Molecular Diagnostics / PCR |
| Schilddrüsenkarzinom | Schilddrüsenkarzinom: PTEN, RET, SDHB, SDHC, SDHD, APC, ATM, CHEK2, MEN1, MUTYH, SDHAF2, STK11 | Molecular Diagnostics / PCR |
| Schizenzephalie | Schizenzephalie | Molecular Diagnostics / PCR |
| Schulalter: ID171 | Schulalter: ID171 | Molecular Diagnostics / PCR |
| Schwangerschaftsverlust (RPRGL1) | Schwangerschaftsverlust (RPRGL1) | Molecular Diagnostics / PCR |
| Schwangerschaftsverlust (RPRGL2) | Schwangerschaftsverlust (RPRGL2) | Molecular Diagnostics / PCR |
| Schwerhörigkeit, autosomal- dominant (DFNA3A) | Schwerhörigkeit, autosomal- dominant (DFNA3A) | Molecular Diagnostics / PCR |
| Schwerhörigkeit, autosomal- dominant (DFNA3B) | Schwerhörigkeit, autosomal- dominant (DFNA3B) | Molecular Diagnostics / PCR |
| Schwerhörigkeit, autosomal- rezessiv (DFNB1A) | Schwerhörigkeit, autosomal- rezessiv (DFNB1A) | Molecular Diagnostics / PCR |
| Schwerhörigkeit, autosomal- rezessiv (DFNB1B) | Schwerhörigkeit, autosomal- rezessiv (DFNB1B) | Molecular Diagnostics / PCR |
| Schwerhörigkeit, digenisch | Schwerhörigkeit, digenisch | Molecular Diagnostics / PCR |
| Seckel-Syndrom (SCKL): ID113 | Seckel-Syndrom (SCKL): ID113 | Molecular Diagnostics / PCR |
| Short QT-Syndrom (SQT): CACNA1C, KCNH2, KCNQ1 | Short QT-Syndrom (SQT): CACNA1C, KCNH2, KCNQ1 | Molecular Diagnostics / PCR |
| Short-QT-Syndrom (SQT1) | Short-QT-Syndrom (SQT1) | Molecular Diagnostics / PCR |
| Short-QT-Syndrom (SQT2) | Short-QT-Syndrom (SQT2) | Molecular Diagnostics / PCR |
| Sichelzellenanämie | Sichelzellenanämie | Molecular Diagnostics / PCR |
| Sick-Sinus-Syndrom (SSS): ID107 | Sick-Sinus-Syndrom (SSS): ID107 | Molecular Diagnostics / PCR |
| Sick-Sinus-Syndrom (SSS1) | Sick-Sinus-Syndrom (SSS1) | Molecular Diagnostics / PCR |
| Smith-Lemli-Opitz-Syndrom (SLOS) | Smith-Lemli-Opitz-Syndrom (SLOS) | Molecular Diagnostics / PCR |
| Smith-McCort-Dysplasie (SMC1) | Smith-McCort-Dysplasie (SMC1) | Molecular Diagnostics / PCR |
| Sotos-Syndrom (SOTOS): ID181 | Sotos-Syndrom (SOTOS): ID181 | Molecular Diagnostics / PCR |
| Spastische Ataxie (SPAX): ID228 | Spastische Ataxie (SPAX): ID228 | Molecular Diagnostics / PCR |
| Spermatogenese-Defekt, Y-chromosomal (SPGFY) | Spermatogenese-Defekt, Y-chromosomal (SPGFY) | Molecular Diagnostics / PCR |
| Sphärozytose (SPH) und | Sphärozytose (SPH) | Molecular Diagnostics / PCR |
| Spinobulbäre Muskelatrophie, X-chromosomal (SMAX1) | Spinobulbäre Muskelatrophie, X-chromosomal (SMAX1) | Molecular Diagnostics / PCR |
| Spondylokostale Dysostose | Spondylokostale Dysostose | Molecular Diagnostics / PCR |
| Spondylometaphysäre Dysplasie | Spondylometaphysäre Dysplasie | Molecular Diagnostics / PCR |
| Stickler-Syndrom (STL): ID062 | Stickler-Syndrom (STL): ID062 | Molecular Diagnostics / PCR |
| Stiff-Skin-Syndrom (SSKS) | Stiff-Skin-Syndrom (SSKS) | Molecular Diagnostics / PCR |
| Stoffwechselstörung mit Epilepsie | Stoffwechselstörung mit Epilepsie | Molecular Diagnostics / PCR |
| Stromasarkom | Stromasarkom | Molecular Diagnostics / PCR |
| Störung der Spermatogenese | Störung der Spermatogenese | Molecular Diagnostics / PCR |
| Syndrom (AHUS): ID163 | Syndrom (AHUS): ID163 | Molecular Diagnostics / PCR |
| Syndrom (BCDS1) | Syndrom (BCDS1) | Molecular Diagnostics / PCR |
| Syndrom (CMS): ID130 | Syndrom (CMS): ID130 | Molecular Diagnostics / PCR |
| Syndromale Schwerhörigkeit, umfassende Diagnostik: ID190 | Syndromale Schwerhörigkeit, umfassende Diagnostik: ID190 | Molecular Diagnostics / PCR |
| TGFB2 | TGFB2 | Molecular Diagnostics / PCR |
| TP53 | TP53 | Molecular Diagnostics / PCR |
| Teleangiektasie (HHT): ID155 | Teleangiektasie (HHT): ID155 | Molecular Diagnostics / PCR |
| Thanatophore Dysplasie (TD) | Thanatophore Dysplasie (TD) | Molecular Diagnostics / PCR |
| Thorakalen Aortenaneurysma mit oder ohne Aortendissektion (TAAD) | Thorakalen Aortenaneurysma mit oder ohne Aortendissektion (TAAD) | Molecular Diagnostics / PCR |
| Thorakales Aortenaneurysma, familiäres (AAT) | Thorakales Aortenaneurysma, familiäres (AAT) | Molecular Diagnostics / PCR |
| Thorakales Aortenaneurysma, familiäres (AAT6) | Thorakales Aortenaneurysma, familiäres (AAT6) | Molecular Diagnostics / PCR |
| Thrombophilie (THPH) (677C>T) | Thrombophilie (THPH) (677C>T) | Molecular Diagnostics / PCR |
| Thrombophilie (THPH): ID150 | Thrombophilie (THPH): ID150 | Molecular Diagnostics / PCR |
| Thrombophilie durch | Thrombophilie durch | Molecular Diagnostics / PCR |
| Thrombophilie durch Thrombin- Defekt (THPH1) (20210G>A) | Thrombophilie durch Thrombin- Defekt (THPH1) (20210G>A) | Molecular Diagnostics / PCR |
| Thrombozytendefekte, umfassende Diagnostik: ID274 | Thrombozytendefekte, umfassende Diagnostik: ID274 | Molecular Diagnostics / PCR |
| Timothy-Syndrom (TS) | Timothy-Syndrom (TS) | Molecular Diagnostics / PCR |
| Tropische kalzifizierende | Tropische kalzifizierende | Molecular Diagnostics / PCR |
| Uniparentale Disomie 11 (patUPD11) - Beckwith-Wiedemann-Syndrom (BWS) | Uniparentale Disomie 11 (patUPD11) - Beckwith-Wiedemann-Syndrom (BWS) | Molecular Diagnostics / PCR |
| Uniparentale Disomie 14 (patUPD14) - Kagami-Ogata-Syndrom | Uniparentale Disomie 14 (patUPD14) - Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Uniparentale Disomie 15 (matUPD15) - Prader-Willi-Syndrom (PWS) | Uniparentale Disomie 15 (matUPD15) - Prader-Willi-Syndrom (PWS) | Molecular Diagnostics / PCR |
| Uniparentale Disomie 15 (patUPD15) - Angelman-Syndrom (AS) | Uniparentale Disomie 15 (patUPD15) - Angelman-Syndrom (AS) | Molecular Diagnostics / PCR |
| Uniparentale Disomie 7 (matUPD7) - Silver-Russel-Syndrom (RSS) | Uniparentale Disomie 7 (matUPD7) - Silver-Russel-Syndrom (RSS) | Molecular Diagnostics / PCR |
| Usher-Syndrom (USH): ID034 | Usher-Syndrom (USH): ID034 | Molecular Diagnostics / PCR |
| VACTERL-Assoziation | VACTERL-Assoziation: ID258 | Molecular Diagnostics / PCR |
| VHL | VHL | Molecular Diagnostics / PCR |
| Ventrikelseptumdefekt | Ventrikelseptumdefekt | Molecular Diagnostics / PCR |
| Vohwinkel-Syndrom (VOWNKL) | Vohwinkel-Syndrom (VOWNKL) | Molecular Diagnostics / PCR |
| Vorhofflimmern, familiäre Form | Vorhofflimmern, familiäre Form | Molecular Diagnostics / PCR |
| Vorzeitige Ovarialinsuffizienz | Vorzeitige Ovarialinsuffizienz | Molecular Diagnostics / PCR |
| Vorzeitige Ovarialinsuffizienz (POF1) | Vorzeitige Ovarialinsuffizienz (POF1) | Molecular Diagnostics / PCR |
| Wachstumshormonmangel | Wachstumshormonmangel: ID211 | Molecular Diagnostics / PCR |
| Walker-Warburg-Syndrom | Walker-Warburg-Syndrom | Molecular Diagnostics / PCR |
| Watson-Syndrom (WTSN) | Watson-Syndrom (WTSN) | Molecular Diagnostics / PCR |
| Weibliche Infertilität | Weibliche Infertilität | Molecular Diagnostics / PCR |
| Weill-Marchesani-Syndrom | Weill-Marchesani-Syndrom | Molecular Diagnostics / PCR |
| Weill-Marchesani-Syndrom 2 (WMS2) | Weill-Marchesani-Syndrom 2 (WMS2) | Molecular Diagnostics / PCR |
| Whole Exome Sequencing (WES) | Whole Exome Sequencing (WES) | Molecular Diagnostics / PCR |
| Whole Exome Sequencing (WES), Trio-Analyse | Whole Exome Sequencing (WES), Trio-Analyse | Molecular Diagnostics / PCR |
| Wilms-Tumor (WT1) | Wilms-Tumor (WT1) | Molecular Diagnostics / PCR |
| Wilson-Krankheit (WND) | Wilson-Krankheit (WND) | Molecular Diagnostics / PCR |
| Wolff-Parkinson-White-Syndrom | Wolff-Parkinson-White-Syndrom | Molecular Diagnostics / PCR |
| X-chromosomal | X-chromosomal | Molecular Diagnostics / PCR |
| Zapfen- und Zapfen-Stäbchen- Dystrophie (COD, CORD): ID101 | Zapfen- und Zapfen-Stäbchen- Dystrophie (COD, CORD): ID101 | Molecular Diagnostics / PCR |
| Zellweger-Syndrom (ZWS): ID084 | Zellweger-Syndrom (ZWS): ID084 | Molecular Diagnostics / PCR |
| Zerebelläre Ataxie, X-chromosomal: ID273 | Zerebelläre Ataxie, X-chromosomal: ID273 | Molecular Diagnostics / PCR |
| Zerebelläre Ataxie, autosomal-rezessiv: ID213 | Zerebelläre Ataxie, autosomal-rezessiv: ID213 | Molecular Diagnostics / PCR |
| Zerebelläre Dysgenesie, X-chromosomal: ID219 | Zerebelläre Dysgenesie, X-chromosomal: ID219 | Molecular Diagnostics / PCR |
| Zerebrovaskuläre Erkrankungen | Zerebrovaskuläre Erkrankungen | Molecular Diagnostics / PCR |
| Zystische Fibrose (CF) | Zystische Fibrose (CF) | Molecular Diagnostics / PCR |
| Zystische Fibrose (CF) - EBM 11351/11352: ID045 | Zystische Fibrose (CF) - EBM 11351/11352: ID045 | Molecular Diagnostics / PCR |
| autosomal-dominant | autosomal-dominant | Molecular Diagnostics / PCR |
| demyelinisierende Erkrankungen | demyelinisierende Erkrankungen | Molecular Diagnostics / PCR |
| des Gehirns; ID278 | des Gehirns; ID278 | Molecular Diagnostics / PCR |
| diffuses (HDGC) | diffuses (HDGC) | Molecular Diagnostics / PCR |
| durch 21-Hydroxylase-Mangel | durch 21-Hydroxylase-Mangel | Molecular Diagnostics / PCR |
| familiäre neonatale (HBLRTFN) | familiäre neonatale (HBLRTFN) | Molecular Diagnostics / PCR |
| fiebrige (AFND) | fiebrige (AFND) | Molecular Diagnostics / PCR |
| kolorektalen Karzinom (HNPCC6) | kolorektalen Karzinom (HNPCC6) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC1) | kolorektales Karzinom (HNPCC1) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC2) | kolorektales Karzinom (HNPCC2) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC4) | kolorektales Karzinom (HNPCC4) | Molecular Diagnostics / PCR |
| kolorektales Karzinom (HNPCC5) | kolorektales Karzinom (HNPCC5) | Molecular Diagnostics / PCR |
| lymphoproliferatives Syndrom (RALD) | lymphoproliferatives Syndrom (RALD) | Molecular Diagnostics / PCR |
| myelomonozytische (JMML) | myelomonozytische (JMML) | Molecular Diagnostics / PCR |
| neonataler (PNDM2) | neonataler (PNDM2) | Molecular Diagnostics / PCR |
| neonataler (PNDM3) | neonataler (PNDM3) | Molecular Diagnostics / PCR |
| neonataler (TNDM2) | neonataler (TNDM2) | Molecular Diagnostics / PCR |
| neonataler (TNDM3) | neonataler (TNDM3) | Molecular Diagnostics / PCR |
| oxidativen Phosphorylierung | oxidativen Phosphorylierung | Molecular Diagnostics / PCR |
| partielle (FPLD2) | partielle (FPLD2) | Molecular Diagnostics / PCR |
| spinale (FSNF) | spinale (FSNF) | Molecular Diagnostics / PCR |
| ähnliche Krankheitsbilder: ID125 | ähnliche Krankheitsbilder: ID125 | Molecular Diagnostics / PCR |
| AR | AR | Other |
| Absence-Epilepsie (JAE, CAE): | Absence-Epilepsie (JAE, CAE): | Other |
| Adams-Oliver-Syndrom (AOS): | Adams-Oliver-Syndrom (AOS): | Other |
| Atriumseptumdefekt und | Atriumseptumdefekt und | Other |
| Bindegewebserkrankungen mit | Bindegewebserkrankungen mit | Other |
| Endokrine arterielle Hypertonie: | Endokrine arterielle Hypertonie: | Other |
| Entwicklungsbedingte und | Entwicklungsbedingte und | Other |
| F2 | F2 | Other |
| F5 | F5 | Other |
| Fehlbildungssyndrome mit | Fehlbildungssyndrome mit | Other |
| Fetale Akinesie-Sequenz (FADS): | Fetale Akinesie-Sequenz (FADS): | Other |
| Generalisierte Epilepsie mit | Generalisierte Epilepsie mit | Other |
| Geschlechtsentwicklung (DSD): | Geschlechtsentwicklung (DSD): | Other |
| Glomerulosklerose (FSGS) und | Glomerulosklerose (FSGS) und | Other |
| Glykogenspeicherkrankheit (GSD): | Glykogenspeicherkrankheit (GSD): | Other |
| Hemiplegische Migräne (FHM): | Hemiplegische Migräne (FHM): | Other |
| Herzfehler: ID252 | Kongenitale isolierte Herzfehler: | Other |
| Hirnatrophie und | Hirnatrophie und | Other |
| Kardiomyopathie (LVNC, NCCM): | Kardiomyopathie (LVNC, NCCM): | Other |
| Kolobom, Mikrophthalmus und | Kolobom, Mikrophthalmus und | Other |
| Kolorektales Karzinom mit | Kolorektales Karzinom mit | Other |
| Kombinierte Hyperlipidämie: | Kombinierte Hyperlipidämie: | Other |
| Kurzrippen-Thoraxdysplasie mit | Kurzrippen-Thoraxdysplasie mit | Other |
| Leukodystrophien und | Leukodystrophien und | Other |
| Lippen-, Kiefer- und | Lippen-, Kiefer- und | Other |
| Loeys-Dietz-Syndrom (LDS) und | Loeys-Dietz-Syndrom (LDS) und | Other |
| Marfan-Syndrom (MFS) und | Marfan-Syndrom (MFS) und | Other |
| Mentale Retardierung und | Mentale Retardierung und | Other |
| Multiples Pterygium-Syndrom: | Multiples Pterygium-Syndrom: | Other |
| Nephrolithiasis und | Nephrolithiasis und | Other |
| Neurodegeneration mit | Neurodegeneration mit | Other |
| Paragangliom und | Paragangliom und | Other |
| Parkinson-Syndrom (PARK): | Parkinson-Syndrom (PARK): | Other |
| Polyposis-Syndrom (PS, FAP): | Polyposis-Syndrom (PS, FAP): | Other |
| Progerie und | Progerie und | Other |
| Rett-Syndrom (RTT) und | Rett-Syndrom (RTT) und | Other |
| Senior-Loken-Syndrom (SLSN): | Senior-Loken-Syndrom (SLSN): | Other |
| Skelettdysplasie, schwere Form: | Skelettdysplasie, schwere Form: | Other |
| Speichererkrankungen mit | Speichererkrankungen mit | Other |
| Spinale Muskelatrophie (SMA) | Spinale Muskelatrophie (SMA): | Other |
| Spondyloepiphysäre Dysplasie und | Spondyloepiphysäre Dysplasie und | Other |
| Statin-assoziierte Myopathie: | Statin-assoziierte Myopathie: | Other |
| Stoffwechselstörung (SMDP): | Stoffwechselstörung (SMDP): | Other |
| Wachstumsstörung und | Wachstumsstörung und | Other |
| X-chromosomal (MRX, MRXS): | X-chromosomal (MRX, MRXS): | Other |
| Zystische Nierenerkrankungen: | Zystische Nierenerkrankungen: | Other |
| autosomal-dominant (ADCA): | autosomal-dominant (ADCA): | Other |
| autosomal-dominant (DFNA): | autosomal-dominant (DFNA): | Other |
| autosomal-dominant (MRD): | autosomal-dominant (MRD): | Other |
| ventrikuläre Tachykardie (CPVT) | ventrikuläre Tachykardie (CPVT): | Other |
| ähnliche Aortenerkrankungen: | ähnliche Aortenerkrankungen: | Other |
| überwiegend fazialer Beteiligung: | überwiegend fazialer Beteiligung: | Other |
| DIN EN 136 (1998-04) | ID136 | Product Safety (IEC 60335, IEC 62368) |
| 1A | CACNA1A | Spectroscopy (XRF, ICP, AAS) |
| ABCC6 | ABCC6 | Sterility Testing |
| ABCC8 | ABCC8 | Sterility Testing |
| SMN1 | SMN1 | Sterility Testing |
| Episodische Ataxie (EA2) | Episodische Ataxie (EA2) | Temperature / Pressure |
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