Universitätsklinikum Magdeburg A.ö.R. Institut für Humangenetik

174 capabilities Accredited since June 2025 Verified Oct 2026 One of 3,209 in Germany
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Leipziger Straße 44
Magdeburg 39120 , Germany

Accreditation

Active DAkkS D-ML-13264-04-00
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Offers human genetic testing combining molecular diagnostics and cytogenetic analysis, including SNP array-based chromosome analysis and PCR sequencing for genetic variant detection in blood and tissue samples.

Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-13264-04-00

Status

Active

Since

20 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 (174)
Standard Reference Description Category
C9ORF72 C9orf72 Elemental Analysis
Cowden Syndrom Cowden Syndrom Elemental Analysis
Familiäre Hypercholesterinämie Familiäre Hypercholesterinämie Elemental Analysis
(CNV), Validierung von CNV (CNV), Validierung von CNV Molecular Diagnostics / PCR
(SNV), Validierung von SNV (SNV), Validierung von SNV Molecular Diagnostics / PCR
6q24.2, 7p12.2, 7q32.2, 11p15.5, 14q32.2, 15q11.2, 19q13.43, 20q13.32 6q24.2, 7p12.2, 7q32.2, 11p15.5, 14q32.2, 15q11.2, 19q13.43, 20q13.32 Molecular Diagnostics / PCR
Achondroplasie, Hypochondroplasie, Thanatophore Dysplasie, Muenke- Syndrom: FGFR3 Achondroplasie, Hypochondroplasie, Thanatophore Dysplasie, Muenke- Syndrom: FGFR3 Molecular Diagnostics / PCR
Adams-Oliver-Syndrom (AOS) (DLL4, DOCK6, EOGT,…, ARHGAP31); SNV, CNV Adams-Oliver-Syndrom (AOS) (DLL4, DOCK6, EOGT,…, ARHGAP31); SNV, CNV Molecular Diagnostics / PCR
Adipositas Genetisch bedingte Adipositas Molecular Diagnostics / PCR
Albinismus (AP3B1, BLOC1S3, BLOC1S6,TYRP1); SNV, CNV Albinismus (AP3B1, BLOC1S3, BLOC1S6,TYRP1); SNV, CNV Molecular Diagnostics / PCR
Alport- und Alport-like-Syndrom Alport- und Alport-like-Syndrom Molecular Diagnostics / PCR
Alzheimer'sche Erkrankung (APOE, APP, PSEN1, PSEN2); SNV, CNV Alzheimer'sche Erkrankung (APOE, APP, PSEN1, PSEN2); SNV, CNV Molecular Diagnostics / PCR
Alzheimer'sche Erkrankung: APOE Alzheimer'sche Erkrankung: APOE Molecular Diagnostics / PCR
Amyotrophe Lateralsklerose(ALS) Amyotrophe Lateralsklerose(ALS) Molecular Diagnostics / PCR
Angelman-Syndrom (AS) Angelman-Syndrom (AS): UBE3A Molecular Diagnostics / PCR
Anämie, megaloblastär (ABCD4, ALAS2, AMN,UMPS); SNV, CNV Anämie, megaloblastär (ABCD4, ALAS2, AMN,UMPS); SNV, CNV Molecular Diagnostics / PCR
Aortenaneurysma (ABCC6, ACTA2, ACVR1,ZNF469); SNV, CNV Aortenaneurysma (ABCC6, ACTA2, ACVR1,ZNF469); SNV, CNV Molecular Diagnostics / PCR
Arteriopathie mit subkortikalen Infarkten Arteriopathie mit subkortikalen Infarkten Molecular Diagnostics / PCR
Arthrogrypose (ACTA1, ADCY6, ADGRG6,ZC4H2); SNV, CNV Arthrogrypose (ACTA1, ADCY6, ADGRG6,ZC4H2); SNV, CNV Molecular Diagnostics / PCR
Ataxie (ABCA1, ABCB7, ABHD12,XRCC1); SNV, CNV Ataxie (ABCA1, ABCB7, ABHD12,XRCC1); SNV, CNV Molecular Diagnostics / PCR
Augenerkrankungen (ABCA4, ABCB6, ABHD12,ZNF469); SNV, CNV Augenerkrankungen (ABCA4, ABCB6, ABHD12,ZNF469); SNV, CNV Molecular Diagnostics / PCR
Autismus (AP1S2, ATRX, AUTS2,ZEB2); SNV, CNV Autismus (AP1S2, ATRX, AUTS2,ZEB2); SNV, CNV Molecular Diagnostics / PCR
Autoinflammatorische Syndrome Autoinflammatorische Syndrome Molecular Diagnostics / PCR
Bindegewebserkrankungen inkl. thorakales Bindegewebserkrankungen inkl. thorakales Molecular Diagnostics / PCR
Blutbildungsdefekte (ABCB6, ABCB7, ABCD4,ZCCHC8); SNV, CNV Blutbildungsdefekte (ABCB6, ABCB7, ABCD4,ZCCHC8); SNV, CNV Molecular Diagnostics / PCR
CL3N58, CL3N59 (ZNF9-Gen) CL3N58, CL3N59 (ZNF9-Gen) Molecular Diagnostics / PCR
Cerebral cavernous malformations (CAM) (CCM2, KRIT1, PDCD10); SNV, CNV Cerebral cavernous malformations (CAM) (CCM2, KRIT1, PDCD10); SNV, CNV Molecular Diagnostics / PCR
Cerebrale Mikroangiopathien inkl. Cerebrale Mikroangiopathien inkl. Molecular Diagnostics / PCR
Cholestase (ABCB11, ABCB4, ABCC12,VPS33B); SNV, CNV Cholestase (ABCB11, ABCB4, ABCC12,VPS33B); SNV, CNV Molecular Diagnostics / PCR
Chorea Huntington Chorea-Huntington Molecular Diagnostics / PCR
Chromosomeninstabilitätssyndrome Chromosomeninstabilitätssyndrome Molecular Diagnostics / PCR
Cystische Fibrose (CF): CFTR Cystische Fibrose (CF): CFTR Molecular Diagnostics / PCR
Darmkrebs (CRC), unbestimmt Darmkrebs (CRC), unbestimmt Molecular Diagnostics / PCR
Demenzerkrankungen (ADAR, ALS2, ANG,XPR1); SNV, CNV Demenzerkrankungen (ADAR, ALS2, ANG,XPR1); SNV, CNV Molecular Diagnostics / PCR
Disorders of Sexual Development, Adrenogenitales-Syndrom (AGS) Disorders of Sexual Development, Adrenogenitales-Syndrom (AGS) Molecular Diagnostics / PCR
Drucklähmungen (HNPP) / Charcot-Marie- Tooth Neuropathie Typ 1A (CMT1A, HMSN1A): 17p12 Drucklähmungen (HNPP) / Charcot-Marie- Tooth Neuropathie Typ 1A (CMT1A, HMSN1A): 17p12 Molecular Diagnostics / PCR
Dystonie (ACY1, ADCY5, ANO3,VPS13D); SNV, CNV Dystonie (ACY1, ADCY5, ANO3,VPS13D); SNV, CNV Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom, klassischer Typ (COL1A1, COL5A1, COL5A2); SNV, CNV Ehlers-Danlos-Syndrom, klassischer Typ (COL1A1, COL5A1, COL5A2); SNV, CNV Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom, vaskulärer Typ (COL3A1); SNV, CNV Ehlers-Danlos-Syndrom, vaskulärer Typ (COL3A1); SNV, CNV Molecular Diagnostics / PCR
Entwicklungsstörungen - Angelmann- Syndrom und Rett-like-Syndrom Entwicklungsstörungen - Angelmann- Syndrom und Rett-like-Syndrom Molecular Diagnostics / PCR
Entwicklungsstörungen - X-gebundene Entwicklungsstörungen - X-gebundene Molecular Diagnostics / PCR
Entwicklungsstörungen - syndromale Entwicklungsstörungen - syndromale Molecular Diagnostics / PCR
Epilepsie (AARS1, ABAT, ACY1,…, WWOX); SNV, CNV Epilepsie (AARS1, ABAT, ACY1,…, WWOX); SNV, CNV Molecular Diagnostics / PCR
Erkrankungen Neurodegenrative Erkrankungen Molecular Diagnostics / PCR
Extremitätenfehlbildungen (ARHGAP31, ARHGAP40, ARID1A,YY1AP1); SNV, CNV Extremitätenfehlbildungen (ARHGAP31, ARHGAP40, ARID1A,YY1AP1); SNV, CNV Molecular Diagnostics / PCR
Familiärer Brust- und Eierstockkrebs (ATM, BARD1, BRCA1, BRCA2, BRIP1, CHD1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Familiärer Brust- und Eierstockkrebs (ATM, BARD1, BRCA1, BRCA2, BRIP1, CHD1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Molecular Diagnostics / PCR
Familiärer Brust- und Eierstockkrebs (ATM, BARD1, BRCA1,…, TP53); SNV, CNV Familiärer Brust- und Eierstockkrebs (ATM, BARD1, BRCA1,…, TP53); SNV, CNV Molecular Diagnostics / PCR
Fibrillinopathien (FBN1, TGFBR1, TGFBR2); SNV, CNV Fibrillinopathien (FBN1, TGFBR1, TGFBR2); SNV, CNV Molecular Diagnostics / PCR
Fiebersyndrome, periodisch (ADA2, AP1S3, APOA1,WDR1); SNV, CNV Fiebersyndrome, periodisch (ADA2, AP1S3, APOA1,WDR1); SNV, CNV Molecular Diagnostics / PCR
Formen (A2ML1, ABCC6, ABCC9,ZNF81); SNV, CNV Formen (A2ML1, ABCC6, ABCC9,ZNF81); SNV, CNV Molecular Diagnostics / PCR
Formen (ACSL4, AFF2, AGTR2,ZNF81); SNV, CNV Formen (ACSL4, AFF2, AGTR2,ZNF81); SNV, CNV Molecular Diagnostics / PCR
Fragiles X-Syndrom (FraX), Prämature Fragiles X-Syndrom (FraX), Prämature Molecular Diagnostics / PCR
GJB2, GJB6 GJB2, GJB6 Molecular Diagnostics / PCR
Gefäßmalformationen, regionaler Gefäßmalformationen, regionaler Molecular Diagnostics / PCR
Gliedergürtel-Muskeldystrophien (LGMD) und Differentialdiagnosen (ABHD5, ACADM, ACADS,YARS2); SNV, CNV Gliedergürtel-Muskeldystrophien (LGMD) und Differentialdiagnosen (ABHD5, ACADM, ACADS,YARS2); SNV, CNV Molecular Diagnostics / PCR
Glykosylphosphatidylinositol (GPI)- Ankerstörungen (GPAA1, PGAP1, PGAP2,PIGY); SNV, CNV Glykosylphosphatidylinositol (GPI)- Ankerstörungen (GPAA1, PGAP1, PGAP2,PIGY); SNV, CNV Molecular Diagnostics / PCR
HPO-basierte Exome Analyse (WES-HPO); SNV, CNV HPO-basierte Exome Analyse (WES-HPO); SNV, CNV Molecular Diagnostics / PCR
Hereditäre Neuropathie mit Neigung zu Hereditäre Neuropathie mit Neigung zu Molecular Diagnostics / PCR
Hereditäre Sensomotorische Neuropathien (HMSN) (AARS1, ABHD12, AIFM1,YARS1); SNV, CNV Hereditäre Sensomotorische Neuropathien (HMSN) (AARS1, ABHD12, AIFM1,YARS1); SNV, CNV Molecular Diagnostics / PCR
Hereditäre spastische Paraparesen (HSP), spastische Paraplegien (SPG), spastische Hereditäre spastische Paraparesen (HSP), spastische Paraplegien (SPG), spastische Molecular Diagnostics / PCR
Herzfehler, genetisch (AARS2, ABCA1, ABCC9,VCP); SNV, CNV Herzfehler, genetisch (AARS2, ABCA1, ABCC9,VCP); SNV, CNV Molecular Diagnostics / PCR
Hypogonadotroper Hypogonadismus (ANOS1, AXL, CCDC141,WDR11); SNV, CNV Hypogonadotroper Hypogonadismus (ANOS1, AXL, CCDC141,WDR11); SNV, CNV Molecular Diagnostics / PCR
Hämochromatose Hämochromatose: HFE-Gen: C282Y Molecular Diagnostics / PCR
Hämophilie A (F8); SNV, CNV Hämophilie A (F8); SNV, CNV Molecular Diagnostics / PCR
Ichtyosis, Palmoplantarkeratose, Keratinisierungsstörungen (AAGAB, ABCA12, ABHD5,WNT10A); SNV, CNV Ichtyosis, Palmoplantarkeratose, Keratinisierungsstörungen (AAGAB, ABCA12, ABHD5,WNT10A); SNV, CNV Molecular Diagnostics / PCR
Joubert-Syndrom (AHI1, ARL13B, ARL3,ZNF423); SNV, CNV Joubert-Syndrom (AHI1, ARL13B, ARL3,ZNF423); SNV, CNV Molecular Diagnostics / PCR
Kardiomyopathie (AARS2, ABCC9, ACAD9,TGFB3); SNV, CNV Kardiomyopathie (AARS2, ABCC9, ACAD9,TGFB3); SNV, CNV Molecular Diagnostics / PCR
Karzinom (HNPCC) (EPCAM, MLH1, MSH2, MSH3, MSH6, PMS2) Karzinom (HNPCC) (EPCAM, MLH1, MSH2, MSH3, MSH6, PMS2) Molecular Diagnostics / PCR
Karzinom (HNPCC) (EPCAM, MLH1, MSH2,…, PMS2); SNV, CNV Karzinom (HNPCC) (EPCAM, MLH1, MSH2,…, PMS2); SNV, CNV Molecular Diagnostics / PCR
Kleinwuchs (ALMS1, BTK, CCDC8,STAT5B); SNV, CNV Kleinwuchs (ALMS1, BTK, CCDC8,STAT5B); SNV, CNV Molecular Diagnostics / PCR
Klippel-Feil-Syndrom (DLL3, GDF3, GDF6,ZIC3); SNV, CNV Klippel-Feil-Syndrom (DLL3, GDF3, GDF6,ZIC3); SNV, CNV Molecular Diagnostics / PCR
Kraniosynostosen (ALPL, ALX1, ALX3,ZIC1); SNV, CNV Kraniosynostosen (ALPL, ALX1, ALX3,ZIC1); SNV, CNV Molecular Diagnostics / PCR
Leukodystrophien, Leukoenzephalopathien (AARS1, AARS2, ABCD1,ZNHIT3); SNV, CNV Leukodystrophien, Leukoenzephalopathien (AARS1, AARS2, ABCD1,ZNHIT3); SNV, CNV Molecular Diagnostics / PCR
Leukämie (JMML) (GNAS, LZTR1, NF1,SPRED1); SNV, CNV Leukämie (JMML) (GNAS, LZTR1, NF1,SPRED1); SNV, CNV Molecular Diagnostics / PCR
Li Fraumeni Syndrom Li-Fraumeni-Syndrom Molecular Diagnostics / PCR
Lipodystrophie (AGPAT2, AKT2, BANF1,ZMPSTE24); SNV, CNV Lipodystrophie (AGPAT2, AKT2, BANF1,ZMPSTE24); SNV, CNV Molecular Diagnostics / PCR
Lymphatische Malformationen (LM) (ADAMTS3, ANGPT2, ARAF,…, VEGFC); SNV, CNV Lymphatische Malformationen (LM) (ADAMTS3, ANGPT2, ARAF,…, VEGFC); SNV, CNV Molecular Diagnostics / PCR
Lymphödeme (AKT1, BRAF, CBL,…, VEGFC); SNV, CNV Lymphödeme (AKT1, BRAF, CBL,…, VEGFC); SNV, CNV Molecular Diagnostics / PCR
Lynch-Syndrom / Hereditäres Lynch-Syndrom / Hereditäres Molecular Diagnostics / PCR
Lysomale Speichererkrankungen, Mukopolysaccharidose (ABCC8, ACY1, ADAMTSL2,TPP1); SNV, CNV Lysomale Speichererkrankungen, Mukopolysaccharidose (ABCC8, ACY1, ADAMTSL2,TPP1); SNV, CNV Molecular Diagnostics / PCR
Magen-Ca, unbestimmt (CDH1, CTNNA1, EPCAM,PMS2); SNV, CNV Magen-Ca, unbestimmt (CDH1, CTNNA1, EPCAM,PMS2); SNV, CNV Molecular Diagnostics / PCR
Magen-Karzinom, diffuses: CDH1 Magen-Karzinom, diffuses: CDH1 Molecular Diagnostics / PCR
Makrozephalie, Großwuchs (AKT1, AKT2, AKT3,UPF3B); SNV, CNV Makrozephalie, Großwuchs (AKT1, AKT2, AKT3,UPF3B); SNV, CNV Molecular Diagnostics / PCR
Marfan-Syndrom und Typ 1 Marfan-Syndrom und Typ 1 Molecular Diagnostics / PCR
Medulloblastom (APC, BRCA2, CTNNB1,TP53); SNV, CNV Medulloblastom (APC, BRCA2, CTNNB1,TP53); SNV, CNV Molecular Diagnostics / PCR
Megalenzephalie, Polymikrogyrie, postaxiale Polydaktylie und Hydrozephalus- Syndrom (MPPH) (AKT3, CCND2, PIK3R2(; SNV, CNV Megalenzephalie, Polymikrogyrie, postaxiale Polydaktylie und Hydrozephalus-Syndrom (MPPH): AKT3, CCND2, PIK3R2; SNV, CNV Molecular Diagnostics / PCR
Migrationsstörungen (ACTB, ACTG1, ADGRG1,WDR81); SNV, CNV Migrationsstörungen (ACTB, ACTG1, ADGRG1,WDR81); SNV, CNV Molecular Diagnostics / PCR
Mikrozephalie (AMPD2, ANKLE2, ASNS,ZNF335); SNV, CNV Mikrozephalie (AMPD2, ANKLE2, ASNS,ZNF335); SNV, CNV Molecular Diagnostics / PCR
Mitochondropathien (AARS2, ABCC8, ABCD1,ZNHIT3); SNV, CNV Mitochondropathien (AARS2, ABCC8, ABCD1,ZNHIT3); SNV, CNV Molecular Diagnostics / PCR
Morbus Fabry Morbus Fabry: GLA Molecular Diagnostics / PCR
Morbus Osler (ACVRL1, ENG, GDF2); SNV, CNV Morbus Osler (ACVRL1, ENG, GDF2); SNV, CNV Molecular Diagnostics / PCR
Mukoviszidose Mukoviszidose Molecular Diagnostics / PCR
Multiple endokrine Neoplasie Typ 1 (MEN1): MEN1 Multiple endokrine Neoplasie Typ 1 (MEN1): MEN1 Molecular Diagnostics / PCR
Multiple endokrine Neoplasie Typ 2 (MEN2): RET Multiple endokrine Neoplasie Typ 2 (MEN2): RET Molecular Diagnostics / PCR
Muskeldystrophie Duchenne/Becker (DMD/BMD): DMD-Gen Muskeldystrophie Duchenne/Becker (DMD/BMD): DMD-Gen Molecular Diagnostics / PCR
Muskeldystrophie, kongenitale Muskeldystrophie, kongenitale Molecular Diagnostics / PCR
Myopathie Proximale Myotone Myopathie Molecular Diagnostics / PCR
Myotone Dystrophie Typ 1 (DM1): Myotone Dystrophie Typ 1 (DM1) Molecular Diagnostics / PCR
Nebennierenrindeninsuffizien (NNR- Insuffizienz) (AAAS, AIRE, CDKN1C,WNT4); SNV, CNV Nebennierenrindeninsuffizien (NNR- Insuffizienz) (AAAS, AIRE, CDKN1C,WNT4); SNV, CNV Molecular Diagnostics / PCR
Nephrotisches Syndrom (ACE, ACTN4, COQ8B,WT1); SNV, CNV Nephrotisches Syndrom (ACE, ACTN4, COQ8B,WT1); SNV, CNV Molecular Diagnostics / PCR
Neurofibromatose (NF), Legius-Syndrom, Schwannomatose, McCune-Albright- Syndrom, juvenile myelomonozytäre Neurofibromatose (NF), Legius-Syndrom, Schwannomatose, McCune-Albright- Syndrom, juvenile myelomonozytäre Molecular Diagnostics / PCR
Neuromuskuläre Erkrankungen Neuromuskuläre Erkrankungen Molecular Diagnostics / PCR
Neuropathien, Motoneuropathien Neuropathien, Motoneuropathien Molecular Diagnostics / PCR
Nicht-Polypöses Kolorektales Nicht-Polypöses Kolorektales Molecular Diagnostics / PCR
Optikusatrophie (ACO2, AFG3L2, C12orf65,YME1L1); SNV, CNV Optikusatrophie (ACO2, AFG3L2, C12orf65,YME1L1); SNV, CNV Molecular Diagnostics / PCR
Osteogenesis imperfecta (OI) (ALPL, ANO5, ATP6V0A2,WNT1); SNV, CNV Osteogenesis imperfecta (OI) (ALPL, ANO5, ATP6V0A2,WNT1); SNV, CNV Molecular Diagnostics / PCR
Ovarialinsuffizienz (FXPOI), FraX-Tremor- Ataxie-Syndrom (FXTAS): FMR1 Ovarialinsuffizienz (FXPOI), FraX-Tremor- Ataxie-Syndrom (FXTAS): FMR1 Molecular Diagnostics / PCR
PROC PROC Molecular Diagnostics / PCR
PROS1 PROS1 Molecular Diagnostics / PCR
PRRT2 PRRT2 Molecular Diagnostics / PCR
Pankreas-Ca assoziierte Syndrome Pankreas-Ca assoziierte Syndrome Molecular Diagnostics / PCR
Pankreatitis Pankreatitis Molecular Diagnostics / PCR
Periventrikuläre noduläre Heterotopie (PVNH) (ARF1 , ARFGEF2 , DCX,TMTC3); SNV, CNV Periventrikuläre noduläre Heterotopie (PVNH) (ARF1 , ARFGEF2 , DCX,TMTC3); SNV, CNV Molecular Diagnostics / PCR
Phäochromozytom, Paragangliom Phäochromozytom, Paragangliom Molecular Diagnostics / PCR
Polyzystische Nierenerkrankung, Polyzystische Lebererkrankung, CAKUT (ACE, ACTA2, ACTG2,ZNF423); SNV, CNV Polyzystische Nierenerkrankung, Polyzystische Lebererkrankung, CAKUT (ACE, ACTA2, ACTG2,ZNF423); SNV, CNV Molecular Diagnostics / PCR
Prader-Willi-Syndrom (PWS) / Angelman- Syndrom (AS): 15q11-13 Prader-Willi-Syndrom (PWS) / Angelman- Syndrom (AS): 15q11-13 Molecular Diagnostics / PCR
Prostata-Ca, unbestimmt (ATM, BRCA1, BRCA2,…, PMS2); SNV, CNV Prostata-Ca, unbestimmt (ATM, BRCA1, BRCA2,…, PMS2); SNV, CNV Molecular Diagnostics / PCR
Prämature Ovarialinsuffizienz (POI) (BMP15, CLPP, FIGLA,SOHLH1); SNV, CNV Prämature Ovarialinsuffizienz (POI) (BMP15, CLPP, FIGLA,SOHLH1); SNV, CNV Molecular Diagnostics / PCR
Rasopathien, Noonan-Syndrom, LEOPARD- Syndrom, CFC-Syndrom, Mosaik- Rasopathien, fetales RASopathie-Syndrom (ARAF, BRAF, CBL,YWHAZ); SNV, CNV Rasopathien, Noonan-Syndrom, LEOPARD- Syndrom, CFC-Syndrom, Mosaik- Rasopathien, fetales RASopathie-Syndrom (ARAF, BRAF, CBL,YWHAZ); SNV, CNV Molecular Diagnostics / PCR
Retinitis pigmentosa (RP) (ABCA4, ADGRA3, ADIPOR1,ZNF513); SNV, CNV Retinitis pigmentosa (RP) (ABCA4, ADGRA3, ADIPOR1,ZNF513); SNV, CNV Molecular Diagnostics / PCR
Rett Syndrom Rett-Syndrom: MECP2 Molecular Diagnostics / PCR
Rhythmusstörungen (ABCC9, AKAP9, ANK2,TTN); SNV, CNV Rhythmusstörungen (ABCC9, AKAP9, ANK2,TTN); SNV, CNV Molecular Diagnostics / PCR
SHOX-bedingter Kleinwuchs, Leri-Weill- Syndrom: SHOX SHOX-bedingter Kleinwuchs, Leri-Weill- Syndrom: SHOX Molecular Diagnostics / PCR
SNRPN-Region 15q11-13 UPD15 SNRPN-Region 15q11-13 UPD15 Molecular Diagnostics / PCR
Saethre-Chotzen-Syndrom, Brachyzephalie, isolierte, Skaphokephalie, isolierte: TWIST1 Saethre-Chotzen-Syndrom, Brachyzephalie, isolierte, Skaphokephalie, isolierte: TWIST1 Molecular Diagnostics / PCR
Schwerhörigkeit, nicht syndromal und syndromal (ADGRV1, AIFM1, ALMS1,WHRN); SNV, CNV Schwerhörigkeit, nicht syndromal und syndromal (ADGRV1, AIFM1, ALMS1,WHRN); SNV, CNV Molecular Diagnostics / PCR
Sensorineutrale Schwerhörigkeit Sensorineutrale Schwerhörigkeit Molecular Diagnostics / PCR
Serratiertes Polyposis-Syndrom Serratiertes Polyposis-Syndrom Molecular Diagnostics / PCR
Silver-Russell-Syndrom (SRS) / Beckwith- Wiedemann-Syndrom (BWS): 11p15 Silver-Russell-Syndrom (SRS) / Beckwith- Wiedemann-Syndrom (BWS): 11p15 Molecular Diagnostics / PCR
Small fiber neuropathy (SFN) (ATL1, ATL3, CAV3,GBA); SNV, CNV Small fiber neuropathy (SFN) (ATL1, ATL3, CAV3,GBA); SNV, CNV Molecular Diagnostics / PCR
Spinalparalysen und Differenzialdiagnosen (AAAS, ABCD1, ADAR,ZFYVE27); SNV, CNV Spinalparalysen und Differenzialdiagnosen (AAAS, ABCD1, ADAR,ZFYVE27); SNV, CNV Molecular Diagnostics / PCR
Spinobulbäre Muskelatrophie (SBMA): Spinobulbäre Muskelatrophie (SBMA) Molecular Diagnostics / PCR
Spinozerebelläre Ataxie (SCA1, SCA2, SCA3, SCA6, SCA7, SCA11): ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Spinozerebelläre Ataxie (SCA1, SCA2, SCA3, SCA6, SCA7, SCA11): ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Molecular Diagnostics / PCR
Stoffwechselstörungen inkl. Stoffwechselstörungen inkl. Molecular Diagnostics / PCR
TP53 ); SNV, CNV Tumorprädisposition (AKT1, APC, ATM,TP53); SNV, CNV Molecular Diagnostics / PCR
Thrombophilie Proteil-S-Mangel Thrombophilie Proteil-S-Mangel Molecular Diagnostics / PCR
Thrombophilie Protein-C-Mangel Thrombophilie Protein-C-Mangel Molecular Diagnostics / PCR
Tuberöse Sklerose Typ 1 und Typ 2: TSC1, TSC2 Tuberöse Sklerose Typ 1 und Typ 2: TSC1, TSC2 Molecular Diagnostics / PCR
Tumorprädisposition (ABRAXAS1, AIP, AKT1,XRCC2); SNV, CNV Tumorprädisposition (ABRAXAS1, AIP, AKT1,XRCC2); SNV, CNV Molecular Diagnostics / PCR
UPD14: 14q32 UPD14: 14q32 Molecular Diagnostics / PCR
UPD6: 6q24 UPD6: 6q24 Molecular Diagnostics / PCR
UPD7: 7p12, 7q32 UPD7: 7p12, 7q32 Molecular Diagnostics / PCR
Untersuchung auf familiäre Varianten Untersuchung auf familiäre Varianten Molecular Diagnostics / PCR
Whole exome sequencing (WES); SNV, CNV Whole exome sequencing (WES); SNV, CNV Molecular Diagnostics / PCR
X-Inaktivierung (XCI): FMR1, AR, X-Inaktivierung (XCI): FMR1, AR, RP2 Molecular Diagnostics / PCR
Ziliopathien (ACVR2B, AHI1, ALMS1,ZNF423); SNV, CNV Ziliopathien (ACVR2B, AHI1, ALMS1,ZNF423); SNV, CNV Molecular Diagnostics / PCR
assoziierte Polyposis (MAP), juvenile assoziierte Polyposis (MAP), juvenile Molecular Diagnostics / PCR
hereditäre Lymphödeme, inkl. pränatale hereditäre Lymphödeme, inkl. pränatale Molecular Diagnostics / PCR
individuelle Exome-basierte Multigen-Panel- Analyse (WES-Panel); SNV, CNV individuelle Exome-basierte Multigen-Panel- Analyse (WES-Panel); SNV, CNV Molecular Diagnostics / PCR
kombinierte B- und T-Zellimmundefekte (CD3G, CD40, CD40LG,ZAP70); SNV, CNV kombinierte B- und T-Zellimmundefekte (CD3G, CD40, CD40LG,ZAP70); SNV, CNV Molecular Diagnostics / PCR
kongenitaler Hyperinsulinismus (CHI), Maturity-onset diabetes of the kongenitaler Hyperinsulinismus (CHI), Maturity-onset diabetes of the Molecular Diagnostics / PCR
thorakale Aortenerweiterung (ACTA2, COL3A1, FBN1,TGFBR2); SNV, CNV thorakale Aortenerweiterung (ACTA2, COL3A1, FBN1,TGFBR2); SNV, CNV Molecular Diagnostics / PCR
young (MODY) (ABCC8, AKT2, APPL1,TRMT10A); SNV, CNV young (MODY) (ABCC8, AKT2, APPL1,TRMT10A); SNV, CNV Molecular Diagnostics / PCR
zerebrale autosomal-dominante zerebrale autosomal-dominante Molecular Diagnostics / PCR
Überwuchs, Proteus-Syndrom, CLOVE- Syndrom, MCAP-Syndrom (AKT1, ANTXR1, ELMO2,VHL); SNV, CNV Überwuchs, Proteus-Syndrom, CLOVE- Syndrom, MCAP-Syndrom (AKT1, ANTXR1, ELMO2,VHL); SNV, CNV Molecular Diagnostics / PCR
AARS1, ABCA1,YARS1); SNV, CNV AARS1, ABCA1,YARS1); SNV, CNV Other
AARS1, ABCC9,ZFHX2); SNV, CNV AARS1, ABCC9,ZFHX2); SNV, CNV Other
AARS2, ABCB7,ZNHIT3); SNV, CNV AARS2, ABCB7,ZNHIT3); SNV, CNV Other
ACVR1, ADSS1,YARS2); SNV, CNV ACVR1, ADSS1,YARS2); SNV, CNV Other
ADRB2, ADRB3,WDPCP); SNV, CNV ADRB2, ADRB3,WDPCP); SNV, CNV Other
ARX, ASXL1,ZEB2); SNV, CNV ARX, ASXL1,ZEB2); SNV, CNV Other
ATM, ATR,ZBTB24); SNV, CNV ATM, ATR,ZBTB24); SNV, CNV Other
ATM, BRCA1,…,TP53); SNV, CNV ATM, BRCA1,…,TP53); SNV, CNV Other
AXIN2,STK11); SNV, CNV AXIN2,STK11); SNV, CNV Other
BAP1, CDC73,VHL); SNV, CNV BAP1, CDC73,VHL); SNV, CNV Other
BMPR1A, GREM1,STK11); SNV, CNV BMPR1A, GREM1,STK11); SNV, CNV Other
CARD8, CD70,WDR1); SNV, CNV CARD8, CD70,WDR1); SNV, CNV Other
CHCHD10, FUS,…, VCP); SNV, CNV CHCHD10, FUS,…, VCP); SNV, CNV Other
COL4A1, COL4A2,TREX1); SNV, CNV COL4A1, COL4A2,TREX1); SNV, CNV Other
COL4A3, COL4A4,…, PXDN); SNV, CNV COL4A3, COL4A4,…, PXDN); SNV, CNV Other
Mixed Polyposis-Syndrom (HMPS)) Mixed Polyposis-Syndrom (HMPS)) Other
Mixed Polyposis-Syndrom (HMPS)) Mixed Polyposis-Syndrom (HMPS)) Other
Spinale Muskelatrophie (SMA) Spinale Muskelatrophie (SMA): Other
Wilms-Tumor, Denys-Drash-Syndrom: Wilms-Tumor, Denys-Drash-Syndrom: Other

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