ScopeDNA Diagnostik Hamburg MVZ GbR Abteilung Molekulargenetik
228 capabilities
Accredited since June 2025
Verified Apr 2026
One of 3,039 in Germany
Details
Altonaer StraĂźe 61-63
Hamburg 20357 , Germany
Hamburg 20357 , Germany
Accreditation
Active
DAkkS
D-ML-21979-01-00
Conducts molecular genetic testing using polymerase chain reaction and fragment length analysis, with scope including HLA typing, chromosomal deletion analysis, and genetic marker testing on blood and DNA samples.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-21979-01-00
Status
ActiveSince
17 June 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 (228)
| Standard Reference | Description | Category |
|---|---|---|
| Methylen-Tetrahydrofolat-Reduktase- | Methylentetrahydrofolatreduktase | Biocompatibility (ISO 10993) |
| (GAA) | alpha-Glucosidase (GAA) | Clinical Chemistry |
| Alpha 1-Antitrypsin-Mangel | Alpha-1-Antitrypsin-Mangel | Elemental Analysis |
| Chorea Huntington (HTT) | Chorea Huntington (HTT) | Elemental Analysis |
| Protein Z-Mangel (PROZ) | Protein-Z-Mangel (PROZ) | Food Safety Testing |
| (<25kb): ACADM, ACADS, ACADVL, AMPD1, CACNA1S, CAV3, CPT2, LPIN1, PYGM, RYR1 (nur Exons | (<25kb): Sequenzierung und CNV: | Molecular Diagnostics / PCR |
| (ALDOB) | Fruktoseintoleranz (ALDOB) | Molecular Diagnostics / PCR |
| (AZFa/AZFb/AZFc) | (AZFa/AZFb/AZFc) | Molecular Diagnostics / PCR |
| (BMPR1A, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | (BMPR1A, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | Molecular Diagnostics / PCR |
| (BRCA1-Gen) OMIM# 113705 | (BRCA1-Gen) OMIM# 113705 | Molecular Diagnostics / PCR |
| (BRCA2-Gen) OMIM# 600185 | (BRCA2-Gen) OMIM# 600185 | Molecular Diagnostics / PCR |
| (Clinical Exome) | (Clinical Exome) | Molecular Diagnostics / PCR |
| (DMD) | Becker (DMD) | Molecular Diagnostics / PCR |
| (MEFV) | Familiäres Mittelmeerfieber (MEFV) | Molecular Diagnostics / PCR |
| (MTHFR-Gen, NM_005957, c.665C>T und c.1286A>C) | (MTHFR-Gen, NM_005957, c.665C>T und c.1286A>C) | Molecular Diagnostics / PCR |
| (PAI1-Gen, dbSNP rs1799768) | (PAI1-Gen, dbSNP rs1799768) | Molecular Diagnostics / PCR |
| (POLD1, POLE) | (POLD1, POLE) | Molecular Diagnostics / PCR |
| (RET) | Renale Hypodysplasie/Aplasie (RET) | Molecular Diagnostics / PCR |
| (SERPINA1) | (SERPINA1) | Molecular Diagnostics / PCR |
| (STK11) | Peutz-Jeghers-Syndrom (STK11) | Molecular Diagnostics / PCR |
| (Sequenzierung der Exons 5, 8, 11, 13, 14, 15 und 16 des RET-Gens) | (Sequenzierung der Exons 5, 8, 11, 13, 14, 15 und 16 des RET-Gens) | Molecular Diagnostics / PCR |
| (rs3918290), DPYD*13 | (rs3918290), DPYD*13 | Molecular Diagnostics / PCR |
| (rs55886062), Polymorphismus | (rs55886062), Polymorphismus | Molecular Diagnostics / PCR |
| 22q11 Deletions Syndrom | 22q11 Deletions Syndrom | Molecular Diagnostics / PCR |
| APOA5, APOB (Ex26), APOC2, APOE, GPIHBP1, LDLR, LDLRAP1, LPL, NPC1L1; PCSK9, SORT1, USF1; CNV: | APOA5, APOB (Ex26), APOC2, APOE, GPIHBP1, LDLR, LDLRAP1, LPL, NPC1L1; PCSK9, SORT1, USF1; CNV: | Molecular Diagnostics / PCR |
| APOE, BANF1, BSCL2, CACNA1S | APOE, BANF1, BSCL2, CACNA1S | Molecular Diagnostics / PCR |
| ARHGEF9, ATRX, CUL4B, KDM5C, PHF6, PQBP1 und SLC6A8, CNV: | ARHGEF9, ATRX, CUL4B, KDM5C, PHF6, PQBP1 und SLC6A8, CNV: | Molecular Diagnostics / PCR |
| Adrenogenitales Syndrom | Adrenogenitales Syndrom | Molecular Diagnostics / PCR |
| Alzheimer-Demenz – | Alzheimer-Demenz – | Molecular Diagnostics / PCR |
| Amyloidose, hereditäre – | Amyloidose, hereditäre – | Molecular Diagnostics / PCR |
| Analyse (Region 14q32.2) | Analyse (Region 14q32.2) | Molecular Diagnostics / PCR |
| Analyse: APP, PSEN1, PSEN2, GRN, MAPT; ApoE2,E3,E4- | Quantitative Bestätigungsanalyse | Molecular Diagnostics / PCR |
| Antihrombin-Mangel (SERPINC1) | Antihrombin-Mangel (SERPINC1) | Molecular Diagnostics / PCR |
| Ataxia Teleangiectasia (ATM) | Ataxia Teleangiectasia (ATM) | Molecular Diagnostics / PCR |
| Autismus-Spektrum-Störungen | Autismus-Spektrum-Störungen | Molecular Diagnostics / PCR |
| BARD1 , BRCA1 , BRCA2 , BRIP1 | BARD1 , BRCA1 , BRCA2 , BRIP1 | Molecular Diagnostics / PCR |
| Becker-Muskeldystrophie (DMD) | Becker-Muskeldystrophie (DMD): | Molecular Diagnostics / PCR |
| Beckwith-Wiedemann Syndrom | Beckwith-Wiedemann-Syndrom: | Molecular Diagnostics / PCR |
| Brugada-Syndrom – Paneldiagnostik | Brugada-Syndrom – Paneldiagnostik | Molecular Diagnostics / PCR |
| CDH1 , CDKN2A , CHEK2 , EPCAM | CDH1 , CDKN2A , CHEK2 , EPCAM | Molecular Diagnostics / PCR |
| CNV | FMR1 [OMIM*309550], AFF2 [OMIM*300806]; SNV, CNV | Molecular Diagnostics / PCR |
| COL1A1) | Caffey-Krankheit (COL1A1) | Molecular Diagnostics / PCR |
| COL1A1, COL1A2, Basispanel | COL1A1, COL1A2, Basispanel | Molecular Diagnostics / PCR |
| CYP17A1) (Stufe 1: | CYP17A1) (Stufe 1: | Molecular Diagnostics / PCR |
| Cowden-Like-Syndrom (AKT1, KLLN, PIC3CA, PTEN, SEC23B, SDHB, SDHC, SDHD; CNV: KLLN, PTEN, SDHB, SDHC, SDHD) | Cowden-Like-Syndrom (AKT1, KLLN, PIC3CA, PTEN, SEC23B, SDHB, SDHC, SDHD; CNV: KLLN, PTEN, SDHB, SDHC, SDHD) | Molecular Diagnostics / PCR |
| Cowden-Syndrom (PTEN) | Cowden-Syndrom (PTEN) | Molecular Diagnostics / PCR |
| Cystische Fibrose / Mukoviszidose | Cystische Fibrose / Mukoviszidose | Molecular Diagnostics / PCR |
| DIN EN 107 (1982-02) | OMIM# 608107 | Molecular Diagnostics / PCR |
| DIN EN 430 (1994-11) | OMIM# 188400, 192430 | Molecular Diagnostics / PCR |
| DIN EN ISO 13254 (2018-01) | OMIM# 613254 | Molecular Diagnostics / PCR |
| DIN EN ISO 283 (2016-04) | OMIM# 612283 | Molecular Diagnostics / PCR |
| Diagnostik (>25kb): ABCA1, ABCG5, ABCG8, ACADM, ACADS, ACADVL, AGPAT2, AKT2, AMPD1 , ANGPTL3, ANGPTL4, APOA1, APOA2, APOA4, APOA5, APOB, APOC2, APOC3, | Erweiterte Diagnostik (>25kb): | Molecular Diagnostics / PCR |
| Dubin-Johnson-Syndrom (ABCC2) | Dubin-Johnson-Syndrom (ABCC2) | Molecular Diagnostics / PCR |
| FGF8, FGFR1, PROK2, PROKR2 | FGF8, FGFR1, PROK2, PROKR2 | Molecular Diagnostics / PCR |
| FKRP, LAMA2, LMNA; CNV: FKRP, | FKRP, LAMA2, LMNA; CNV: FKRP, | Molecular Diagnostics / PCR |
| Faktor 13-Mangel (F13A1, F13B) | Faktor 13-Mangel (F13A1, F13B) | Molecular Diagnostics / PCR |
| Faktor-V-Leiden-Mutation (FV-Gen, dbSNP rs6025) | Faktor-V-Leiden-Mutation (FV-Gen, dbSNP rs6025) | Molecular Diagnostics / PCR |
| Fettstoffwechselstörung – | Fettstoffwechselstörung – | Molecular Diagnostics / PCR |
| Fiebersyndrome, periodische – | Fiebersyndrome, periodische – | Molecular Diagnostics / PCR |
| Fruktose-Intoleranz, hereditäre | Fruktose-Intoleranz, hereditäre | Molecular Diagnostics / PCR |
| Gestationsdiabetes – | Gestationsdiabetes – | Molecular Diagnostics / PCR |
| Glaukom – Paneldiagnostik (BEST1, CYP1B1, FOXC1, LTBP2, MYOC, OPTN, PAX6, PITX2, TBK1, TEK, WDR36 (<25kb Panel); CNV: BEST1, CYP1B1, FOXC1, PAX6, PITX2) | Glaukom – Paneldiagnostik (BEST1, CYP1B1, FOXC1, LTBP2, MYOC, OPTN, PAX6, PITX2, TBK1, TEK, WDR36 (<25kb Panel); CNV: BEST1, CYP1B1, FOXC1, PAX6, PITX2) | Molecular Diagnostics / PCR |
| HLA-Typsierung (HLA-B*27) | HLA-Typsierung (HLA-B*27) | Molecular Diagnostics / PCR |
| Hyperinsulinismus, kongenitaler | Hyperinsulinismus, kongenitaler | Molecular Diagnostics / PCR |
| Hyperlipidämie, familiär | Hyperlipidämie, familiär | Molecular Diagnostics / PCR |
| Hämochromatose (FTH1, HAMP, HFE, HFE2, SLC40A1, TFR2) | Hämochromatose (FTH1, HAMP, HFE, HFE2, SLC40A1, TFR2) | Molecular Diagnostics / PCR |
| KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 (<25kb-Panel) CNV: | KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 (<25kb-Panel) CNV: | Molecular Diagnostics / PCR |
| KRAS; Noonan-Syndrom | KRAS; Noonan-Syndrom | Molecular Diagnostics / PCR |
| Kagami-Ogata Syndrom | Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Kallmann-Syndrom – | Kallmann-Syndrom – | Molecular Diagnostics / PCR |
| Kardiomyopathien, hypertrophe | Kardiomyopathien, hypertrophe | Molecular Diagnostics / PCR |
| Karzinom Endometrium (MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN) | Karzinom Endometrium (MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN) | Molecular Diagnostics / PCR |
| Karzinom Magen (ATM, BMPR1A, CDH1, CHEK2, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11, TP53) | Karzinom Magen (ATM, BMPR1A, CDH1, CHEK2, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11, TP53) | Molecular Diagnostics / PCR |
| Karzinom, Ovar (BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, STK11, TP53) | Karzinom, Ovar (BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, STK11, TP53) | Molecular Diagnostics / PCR |
| Karzinom, Pankreas (APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) | Karzinom, Pankreas (APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) | Molecular Diagnostics / PCR |
| Karzinom, Prostata (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53) | Karzinom, Prostata (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53) | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom (TP53, CHEK2, CDKN2A) | Li-Fraumeni-Syndrom (TP53, CHEK2, CDKN2A) | Molecular Diagnostics / PCR |
| LongQT-Syndrom – Paneldiagnostik | LongQT-Syndrom – Paneldiagnostik | Molecular Diagnostics / PCR |
| Maligne Hyperthermie (CACNA1S, RYR1) | Maligne Hyperthermie (CACNA1S, RYR1) | Molecular Diagnostics / PCR |
| Mangel (PROC) | Protein C-Mangel (PROC) | Molecular Diagnostics / PCR |
| Mangel (PROS1) | Protein S-Mangel (PROS1) | Molecular Diagnostics / PCR |
| Marfan Syndrom (FBN1, TGFBR2) | Marfan-Syndrom (FBN1, TGFBR2) | Molecular Diagnostics / PCR |
| Melanom, malignes (CDKN2A) | Melanom, malignes (CDKN2A) | Molecular Diagnostics / PCR |
| Migräne, hemiplegische (FHM) | Migräne, hemiplegische (FHM) | Molecular Diagnostics / PCR |
| Morbus Hirschsprung (RET) | Morbus Hirschsprung (RET) | Molecular Diagnostics / PCR |
| Morbus Wilson (ATP7B) | Morbus Wilson (ATP7B) | Molecular Diagnostics / PCR |
| Multiple Endokrine Neoplasie Typ | Multiple endokrine Neoplasie Typ | Molecular Diagnostics / PCR |
| Muskeldystrophie, Duchenne / | Muskeldystrophie, Duchenne / | Molecular Diagnostics / PCR |
| Muskeldystrophie, GliedergĂĽrtel | Muskeldystrophie, GliedergĂĽrtel | Molecular Diagnostics / PCR |
| Muskeldystrophie, kongenitale | Muskeldystrophie, kongenitale | Molecular Diagnostics / PCR |
| Mutationsanalyse der Gene | Mutationsanalyse der Gene | Molecular Diagnostics / PCR |
| Neurofibromatose Typ1 (NF1) | Neurofibromatose Typ1 (NF1) | Molecular Diagnostics / PCR |
| Neurofibromatose Typ2 (NF2) | Neurofibromatose Typ2 (NF2) | Molecular Diagnostics / PCR |
| Neuropathie Charcot-Marie-Tooth | Neuropathie Charcot-Marie-Tooth | Molecular Diagnostics / PCR |
| Neuropathie, hereditäre motorisch | Neuropathie, hereditäre motorisch | Molecular Diagnostics / PCR |
| OMIM# 101000 | OMIM# 101000 | Molecular Diagnostics / PCR |
| OMIM# 105830, Analyse des | OMIM# 105830, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 107300 | OMIM# 107300 | Molecular Diagnostics / PCR |
| OMIM# 130650, Analyse des | OMIM# 130650, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 141800 | OMIM# 141800 | Molecular Diagnostics / PCR |
| OMIM# 141850 | OMIM# 141850 | Molecular Diagnostics / PCR |
| OMIM# 141900 | OMIM# 141900 | Molecular Diagnostics / PCR |
| OMIM# 142623 | OMIM# 142623 | Molecular Diagnostics / PCR |
| OMIM# 143100 | OMIM# 143100 | Molecular Diagnostics / PCR |
| OMIM# 155601, 606719, 155755 | OMIM# 155601, 606719, 155755 | Molecular Diagnostics / PCR |
| OMIM# 162200 | OMIM# 162200 | Molecular Diagnostics / PCR |
| OMIM# 171400, 162300, 155240 | OMIM# 171400, 162300, 155240 | Molecular Diagnostics / PCR |
| OMIM# 176270, Analyse des | OMIM# 176270, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 176880 | OMIM# 176880 | Molecular Diagnostics / PCR |
| OMIM# 180860, Analyse des | OMIM# 180860, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 191100 | OMIM# 191100 | Molecular Diagnostics / PCR |
| OMIM# 208900 | OMIM# 208900 | Molecular Diagnostics / PCR |
| OMIM# 237500 | OMIM# 237500 | Molecular Diagnostics / PCR |
| OMIM# 277900 | OMIM# 277900 | Molecular Diagnostics / PCR |
| OMIM# 300376 | OMIM# 300376 | Molecular Diagnostics / PCR |
| OMIM# 310200, 300376 | OMIM# 310200, 300376 | Molecular Diagnostics / PCR |
| OMIM# 608149, Analyse des | OMIM# 608149, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 613225, 613235 | OMIM# 613225, 613235 | Molecular Diagnostics / PCR |
| OMIM# 616222, Analyse des | OMIM# 616222, Analyse des | Molecular Diagnostics / PCR |
| OMIM' 193300 | OMIM' 193300 | Molecular Diagnostics / PCR |
| Osteogenesis imperfecta | Osteogenesis imperfecta | Molecular Diagnostics / PCR |
| Ovarialinsuffizienz, prämature (POI) | Ovarialinsuffizienz, prämature (POI) | Molecular Diagnostics / PCR |
| PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1 (<25kb-Panel) CNV: | PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1 (<25kb-Panel) CNV: | Molecular Diagnostics / PCR |
| PNPLA2, PYGM, SLC25A20; CNV: | PNPLA2, PYGM, SLC25A20; CNV: | Molecular Diagnostics / PCR |
| PTEN, TCF4, UBE3A und ZEB2. CNV: | PTEN, TCF4, UBE3A und ZEB2. CNV: | Molecular Diagnostics / PCR |
| Paneldiagnostik (ABCC8, GLUD1, GCK, HNF1A, HNF1B, HNF4A, INSR, KCNJ11 (<25kb)) | Paneldiagnostik (ABCC8, GLUD1, GCK, HNF1A, HNF1B, HNF4A, INSR, KCNJ11 (<25kb)) | Molecular Diagnostics / PCR |
| Paneldiagnostik (ADCY3, ADIPOQ, ADRB2, AGRP, BDNF, CARTPT, GHRL, LEP, LEPR, MC3R, MC4R, NROB2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP1, UCP3) | Paneldiagnostik (ADCY3, ADIPOQ, ADRB2, AGRP, BDNF, CARTPT, GHRL, LEP, LEPR, MC3R, MC4R, NROB2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP1, UCP3) | Molecular Diagnostics / PCR |
| Paneldiagnostik (APOA1, B2M, GSN, LYZ, OSMR, TTR (<25kb)) | Paneldiagnostik (APOA1, B2M, GSN, LYZ, OSMR, TTR (<25kb)) | Molecular Diagnostics / PCR |
| Paneldiagnostik (GCK, HNF1A, HNF1B, HNF4A) | Paneldiagnostik (GCK, HNF1A, HNF1B, HNF4A) | Molecular Diagnostics / PCR |
| Plasminogen Aktivator Inhibitor | Plasminogen-Aktivator-Inhibitor | Molecular Diagnostics / PCR |
| Polyposis, Juvenile (SMAD4, BMPR1A) | Polyposis, Juvenile (SMAD4, BMPR1A) | Molecular Diagnostics / PCR |
| Polyposis, MUTYH-assoziierte | Polyposis, MUTYH-assoziierte | Molecular Diagnostics / PCR |
| Polyposis, Proofreading-assoziierte | Polyposis, Proofreading-assoziierte | Molecular Diagnostics / PCR |
| Polyposis, Serratierte (MUTYH, PTEN, RNF43, GREM1) | Polyposis, Serratierte (MUTYH, PTEN, RNF43, GREM1) | Molecular Diagnostics / PCR |
| Polyposis, adenomatöse (APC, BMPR1A, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | Polyposis, adenomatöse (APC, BMPR1A, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | Molecular Diagnostics / PCR |
| Polyposis, gemischtes Syndrom | Polyposis, gemischtes Syndrom | Molecular Diagnostics / PCR |
| Porphyrie, akute intermittierende | Porphyrie, akute intermittierende | Molecular Diagnostics / PCR |
| Porphyrien, hereditäre – | Porphyrien, hereditäre – | Molecular Diagnostics / PCR |
| Prader Willi Syndrom | Prader-Willi-Syndrom: | Molecular Diagnostics / PCR |
| SMN1; Spinale Muskelatrophie | SMN1; Spinale Muskelatrophie | Molecular Diagnostics / PCR |
| SPINK1, CFTR (häufige Mutationen) | SPINK1, CFTR (häufige Mutationen) | Molecular Diagnostics / PCR |
| Schnellanalyse Familiäre | Schnellanalyse Familiäre | Molecular Diagnostics / PCR |
| Sequenzierung und CNV Cyp21A2 | Sequenzierung und CNV Cyp21A2 | Molecular Diagnostics / PCR |
| Sequenzierung: ABCG5, ABCG8, APOB, APOE, CYP27A1, DHCR7, DHCR24, LDLR, LDLRAP1, LIPA, NPC1L1, PCSK9, SORT1; CNV: | Whole-Exome-Sequenzierung | Molecular Diagnostics / PCR |
| Silver-Russel Syndrom | Silver-Russel-Syndrom | Molecular Diagnostics / PCR |
| Stufe 2: Sequenzierung CYP11B1, HSD3B2, CYP17A1) | Stufe 2: Sequenzierung und CNV: | Molecular Diagnostics / PCR |
| Syndrom, hereditäres (SDHA, SDHAF2, SDHB, SDHC, SDHD, RET, VHL, NF1; CNV: NF1, SDHB, SDHC, SDHD, VHL) | Syndrom, hereditäres (SDHA, SDHAF2, SDHB, SDHC, SDHD, RET, VHL, NF1; CNV: NF1, SDHB, SDHC, SDHD, VHL) | Molecular Diagnostics / PCR |
| Temple-Syndrom | Temple-Syndrom | Molecular Diagnostics / PCR |
| Thalassämie, Alpha | Thalassämie, Alpha | Molecular Diagnostics / PCR |
| Thalassämie, Beta | Thalassämie, Beta | Molecular Diagnostics / PCR |
| Thrombophilie-Paneldiagnostik | Thrombophilie-Paneldiagnostik | Molecular Diagnostics / PCR |
| Tuberöse Sklerose (TSC1, TSC2) | Tuberöse Sklerose (TSC1, TSC2) | Molecular Diagnostics / PCR |
| Tumorerkrankungen | Tumorerkrankungen | Molecular Diagnostics / PCR |
| Typ 1A, 1B, X1 (CMT) OMIM# | Typ 1A, 1B, X1 (CMT) OMIM# | Molecular Diagnostics / PCR |
| Whole Exome Sequencing (WES) | Whole Exome Sequencing (WES) | Molecular Diagnostics / PCR |
| autosomal rezessiv (ANO5, CAPN3, DYSF, FKRP, FKTN, GMPPB, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32; CNV: CAPN3, DYSF, SGCA, SGCB, SGCD, SGCG, FKRP) | autosomal rezessiv (ANO5, CAPN3, DYSF, FKRP, FKTN, GMPPB, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32; CNV: CAPN3, DYSF, SGCA, SGCB, SGCD, SGCG, FKRP) | Molecular Diagnostics / PCR |
| rs67376798, HaplotypB3 | rs67376798, HaplotypB3 | Molecular Diagnostics / PCR |
| sensible (HNPP) OMIM# 162500 | sensible (HNPP) OMIM# 162500 | Molecular Diagnostics / PCR |
| und STAG3 (<25kb Panel); CNV: | und STAG3 (<25kb Panel); CNV: | Molecular Diagnostics / PCR |
| vaskulär (COL3A1); CNV: COL3A1 | vaskulär (COL3A1); CNV: COL3A1 | Molecular Diagnostics / PCR |
| young (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1) | young (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1) | Molecular Diagnostics / PCR |
| (<25kb)) | (<25kb)) | Other |
| (ABCA4, ADAM9, CFAP418, CDHR1, CERKL, CNGB3, CRX, EYS, FSCN2, GUCY2D, KCNV2, PDE6C, POC1B, PROM1, RAB28, RPE65, RPGRIP1, TULP1, DRAM2, SEMA4A, PCARE, GUCA1A, RIMS1, TTLL5, TLCD3B, PITPNM3, UNC119, RAX2, RPGR, CACNA1F, COG6, OPN1LW ); SNV, CNV | CHMP2B, DCTN1, ERBB4, FIG4, GBE1, GLE1, GRN, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, MAPT, MATR3, MME, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, TBK1,TUBA4A, UBQLN2, VAPB, VCP, VEGFA, VPS54) | Other |
| (ATP1A2, CACNA1A, SCN1A | (ATP1A2, CACNA1A, SCN1A | Other |
| (BMP15, DIAPH2, ESR1, FIGLA, FOXL2, FSHR, GDF9, INHA, LHCGR, NOBOX, NR5A1, POF1B, SOHLH1 | (BMP15, DIAPH2, ESR1, FIGLA, FOXL2, FSHR, GDF9, INHA, LHCGR, NOBOX, NR5A1, POF1B, SOHLH1 | Other |
| (CFTR) | (CFTR) | Other |
| (Ex 26), APOC2, APOC3, APOE, GCKR, GK, GPIHBP1, GPD1, LIPC, LMF1, LPL, USF1 (<25kb) CNV: LPL) | (Ex 26), APOC2, APOC3, APOE, GCKR, GK, GPIHBP1, GPD1, LIPC, LMF1, LPL, USF1 (<25kb) CNV: LPL) | Other |
| (HMBS) | (HMBS) | Other |
| (MUTYH) | (MUTYH) | Other |
| (Region: CMT/HNPP PMP22 17p12; | Analyse (Region: PWS/AS (15q11- | Other |
| (Stufe 1: PiZ- / PiS-Genotypisierung | OMIM# 167800 (Stufe 1: | Other |
| (rs7507182)) | (rs7507182)) | Other |
| 13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2) | 13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2) | Other |
| 5q13.2; SMN2 5q13.2) | 5q13.2; SMN2 5q13.2) | Other |
| 613982 (Sequenzierung und CNV: | 613982 (Sequenzierung und CNV: | Other |
| 7p12; 7q32; 14q32) | 7p12; 7q32; 14q32) | Other |
| 8,17,29,50,63), SAR1B, SCARB1, SMPD1, SORT1, SPRTN, USF1, WRN, ZMPSTE24; CNV: LDLR, LPL) | 8,17,29,50,63), SAR1B, SCARB1, SMPD1, SORT1, SPRTN, USF1, WRN, ZMPSTE24; CNV: LDLR, LPL) | Other |
| ABCA1, ANGPTL4, APOA1, APOA2, APOA4, APOC3, CETP, LCAT, LIPC, LIPG, NPC1, NPC2, SCARB1, SMPD1) | ABCA1, ANGPTL4, APOA1, APOA2, APOA4, APOC3, CETP, LCAT, LIPC, LIPG, NPC1, NPC2, SCARB1, SMPD1) | Other |
| AGPAT2, BANF1, BSCL2, CAV1, CIDEC, KCNJ6, LEP, LIPE, LMNA, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, SPRTN, ZMPSTE24) | AGPAT2, BANF1, BSCL2, CAV1, CIDEC, KCNJ6, LEP, LIPE, LMNA, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, SPRTN, ZMPSTE24) | Other |
| ATRX, SLC6A8) | ATRX, SLC6A8) | Other |
| BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 (<25kb)) | BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 (<25kb)) | Other |
| CADASIL | CADASIL | Other |
| CAV1, CAV3, CETP, CIDEC, CPT2, CYP27A1, DHCR24, DHCR7, FBN1, GCKR, GK, GPD1, GPIHBP1, KCNJ6, LCAT, LDLR, LDLRAP1, LEP, LIPA, LIPC, LIPE, LIPG, LMF1, LMNA, LPIN1, LPL, MTTP, NPC1, NPC1L1, NPC2, PCSK9, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, PYGM, RYR1 (nur Exons | CAV1, CAV3, CETP, CIDEC, CPT2, CYP27A1, DHCR24, DHCR7, FBN1, GCKR, GK, GPD1, GPIHBP1, KCNJ6, LCAT, LDLR, LDLRAP1, LEP, LIPA, LIPC, LIPE, LIPG, LMF1, LMNA, LPIN1, LPL, MTTP, NPC1, NPC1L1, NPC2, PCSK9, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, PYGM, RYR1 (nur Exons | Other |
| CDKL5, FOXP1, MECP2, PTEN, TCF4, UBE3A, ZEB2) | CDKL5, FOXP1, MECP2, PTEN, TCF4, UBE3A, ZEB2) | Other |
| CFTR und CTRC) | CFTR und CTRC) | Other |
| Chromosomale (Basispanel (<25kB) | Chromosomale (Basispanel (<25kB) | Other |
| DHCR7, LDLR) | DHCR7, LDLR) | Other |
| DIN EN 310 (1993-08) | Myopathie, Nemaline (TyP1, 3-10: | Other |
| DNAJB6, HNRNPDL, LMNA, MYOT, TNPO3; CNV: CAV3, LMNA, MYOT); | DNAJB6, HNRNPDL, LMNA, MYOT, TNPO3; CNV: CAV3, LMNA, MYOT); | Other |
| DNM2, MTM1, RYR1; CNV: MTM1) | DNM2, MTM1, RYR1; CNV: MTM1) | Other |
| F5, F9, HABP2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINC1, SERPIND1, THBD) | F5, F9, HABP2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINC1, SERPIND1, THBD) | Other |
| FOXL2, NR5A1) | FOXL2, NR5A1) | Other |
| Gen) | Parietalzellen/Magen) | Other |
| Gen) OMIM# 147060 | Gen) OMIM# 147060 | Other |
| Hyper IgE Syndrom (HIES, STAT3- | Hyper IgE Syndrom (HIES, STAT3- | Other |
| Hypercholesterinämie (Basispanel | Hypercholesterinämie (Basispanel | Other |
| Hypertriglyzeridämie (APOA5, APOB | Hypertriglyzeridämie (APOA5, APOB | Other |
| IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) | Other |
| KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A ) | KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A ) | Other |
| Komplettanalyse (erweiterte | Komplettanalyse (erweiterte | Other |
| LAMA2, LMNA) | LAMA2, LMNA) | Other |
| LDLR, LPL) | LDLR, LPL) | Other |
| Lipodystrophie (Basispanel (<25kb): | Lipodystrophie (Basispanel (<25kb): | Other |
| MLH1 , MSH2 , MSH6 , NBN , PALB2, PMS2, POT1, PTEN, RAD51C, RAD51D , STK11, TP53) | MLH1 , MSH2 , MSH6 , NBN , PALB2, PMS2, POT1, PTEN, RAD51C, RAD51D , STK11, TP53) | Other |
| MPZ 1q23.3; GJB1 Xq13.1) | MPZ 1q23.3; GJB1 Xq13.1) | Other |
| MYBPC3, MYH7) | MYBPC3, MYH7) | Other |
| MYH7, RYR1, SEPN1; CNV: MYH7) | MYH7, RYR1, SEPN1; CNV: MYH7) | Other |
| Mangel (ANGPTL3, APOB, APOE, MTTP, NPC1L1, PCSK9, SAR1B | Mangel (ANGPTL3, APOB, APOE, MTTP, NPC1L1, PCSK9, SAR1B | Other |
| Metabolismus (Basispanel (<25kb): | Metabolismus (Basispanel (<25kb): | Other |
| OMIM# 125310, (Sequenzierung | OMIM# 125310, (Sequenzierung | Other |
| OMIM# 163950 (Stufe 1: | OMIM# 163950 (Stufe 1: | Other |
| OMIM# 253300 (Region: SMN1 | OMIM# 253300 (Region: SMN1 | Other |
| OMIM# 274270 (DPYD*2A | OMIM# 274270 (DPYD*2A | Other |
| P3H1. PPIB, SERPINH1, FKBP10, (<25kb)) | P3H1. PPIB, SERPINH1, FKBP10, (<25kb)) | Other |
| Paneldiagnostik (Basispanel (<25kB) | Paneldiagnostik (Basispanel (<25kB) | Other |
| Prothrombin (PTB-Gen, dbSNP | Prothrombin (PTB-Gen, dbSNP | Other |
| Risikoallelbestimmung) | Risikoallelbestimmung) | Other |
| SPINK1, CFTR, CTRC) | SPINK1, CFTR, CTRC) | Other |
| TPM3; Typ2: NEB) | TPM3; Typ2: NEB) | Other |
| TRPM4 (<25kb-Panel) CNV: SCN5A) | TRPM4 (<25kb-Panel) CNV: SCN5A) | Other |
| UROS (<25kb Panel)) | UROS (<25kb Panel)) | Other |
| Whole-Exome-Sequencing (Clinical | Whole-Exome-Sequencing (Clinical | Other |
| assoziierte Myopathie (Basispanel | assoziierte Myopathie (Basispanel | Other |
| kombinierte (Basispanel (<25kb): | kombinierte (Basispanel (<25kb): | Other |
| rs179963) | rs179963) | Other |
| Azoospermiefaktor | Azoospermiefaktor | Sterility Testing |
| DIN EN 14024 (2005-01) | OMIM# 614024 | Tensile / Compression / Flexural |
| DIN EN 13490 (2009-03) | OMIM# 613490 | Vibration / Shock |