Universitätsklinikum Magdeburg A.ö.R. Institut für Humangenetik

178 capabilities Accredited since June 2025 Verified Sep 2026 One of 3,103 in Germany
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Details

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 (178)
Standard Reference Description Category
C9orf72 C9orf72 Elemental Analysis
Cowden Syndrom Cowden Syndrom Elemental Analysis
Familiäre Hypercholesterinämie Familiäre Hypercholesterinämie Elemental Analysis
GLA; Morbus Fabry GLA; Morbus Fabry Elemental Analysis
TRF2/HFE3, Hämochromatose TRF2/HFE3, Hämochromatose Elemental Analysis
(CCM2, KRIT1, PDCD10); SNV, CNV (CCM2, KRIT1, PDCD10); SNV, CNV Molecular Diagnostics / PCR
(CNV), Validierung von CNV (CNV), Validierung von CNV Molecular Diagnostics / PCR
(COL3A1); SNV, CNV (COL3A1); SNV, CNV Molecular Diagnostics / PCR
(DMD/BMD): DMD-Gen (DMD/BMD): DMD-Gen Molecular Diagnostics / PCR
(MEN1): MEN1 (MEN1): MEN1 Molecular Diagnostics / PCR
(PWS)WS/Angelman-Syndrom (AS) (PWS)WS/Angelman-Syndrom (AS) Molecular Diagnostics / PCR
(R3527H, R3558H), LPA, LDLR, PCSK9, LDLRAP1 (R3527H, R3558H), LPA, LDLR, PCSK9, LDLRAP1 Molecular Diagnostics / PCR
(SNV), Validierung von SNV (SNV), Validierung von SNV Molecular Diagnostics / PCR
3M-Syndrom 3M-Syndrom Molecular Diagnostics / PCR
6q24.2, 7p12.2, 7q32.2, 11p15.5, 15q11.2, 19q13.43, 20q13.32 6q24.2, 7p12.2, 7q32.2, 11p15.5, 15q11.2, 19q13.43, 20q13.32 Molecular Diagnostics / PCR
APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 Molecular Diagnostics / PCR
Adrenogenitales-Syndrom (AGS) Adrenogenitales-Syndrom (AGS) Molecular Diagnostics / PCR
Aicardi-Goutières-Syndrom (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 ); SNV, CNV Aicardi-Goutières-Syndrom (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 ); SNV, CNV Molecular Diagnostics / PCR
Albinismus (AP3B1, BLOC1S3, BLOC1S6,TYRP1); SNV, CNV Albinismus (AP3B1, BLOC1S3, BLOC1S6,TYRP1); SNV, CNV Molecular Diagnostics / PCR
Alzheimer'sche Erkrankung (APOE, PSEN1, PSEN2); SNV, CNV Alzheimer'sche Erkrankung (APOE, PSEN1, PSEN2); SNV, CNV Molecular Diagnostics / PCR
Alzheimer'sche Erkrankung: APOE Alzheimer'sche Erkrankung: APOE Molecular Diagnostics / PCR
Analyse (WES-Panel); SNV, CNV Analyse (WES-Panel); SNV, CNV Molecular Diagnostics / PCR
Ankerstörungen (GPAA1, PGAP1, PGAP2,PIGY); SNV, CNV Ankerstörungen (GPAA1, PGAP1, PGAP2,PIGY); SNV, CNV Molecular Diagnostics / PCR
Anämie, megaloblastär (ABCD4, AMN,UMPS); SNV, CNV Anämie, megaloblastär (ABCD4, 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 Arteriopathie mit subkortikalen Molecular Diagnostics / PCR
Arthrogrypose (ACTA1, ADCY6, ADGRG6,ZC4H2); SNV, CNV Arthrogrypose (ACTA1, ADCY6, ADGRG6,ZC4H2); SNV, CNV Molecular Diagnostics / PCR
Ataxie-Syndrom (FXTAS): FMR1 Ataxie-Syndrom (FXTAS): FMR1 Molecular Diagnostics / PCR
Augenerkrankungen (ABCA4, ABCB6, ABHD12,ZNF469); SNV, CNV Augenerkrankungen (ABCA4, ABCB6, ABHD12,ZNF469); SNV, CNV Molecular Diagnostics / PCR
Autoinflammatorische Syndrome Autoinflammatorische Syndrome Molecular Diagnostics / PCR
Bindegewebserkrankungen inkl. Bindegewebserkrankungen inkl. 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 Cerebral cavernous malformations 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
Chromosomeninstabilitätssyndrome Chromosomeninstabilitätssyndrome Molecular Diagnostics / PCR
Clouston-Syndrom Clouston-Syndrom Molecular Diagnostics / PCR
Cystische Fibrose (CF): CFTR Cystische Fibrose (CF): CFTR Molecular Diagnostics / PCR
Demenzerkrankungen (ADAR, ALS2, ANG,XPR1); SNV, CNV Demenzerkrankungen (ADAR, ALS2, ANG,XPR1); SNV, CNV Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom, klassischer Ehlers-Danlos-Syndrom, klassischer Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom, vaskulärer Ehlers-Danlos-Syndrom, vaskulärer Molecular Diagnostics / PCR
Entwicklungsstörungen - X-gebundene Entwicklungsstörungen - X-gebundene Molecular Diagnostics / PCR
Entwicklungsstörungen - syndromale Entwicklungsstörungen - syndromale Molecular Diagnostics / PCR
FMR1 [OMIM*309550], AFF2 [OMIM*300806]; SNV, CNV FMR1 [OMIM*309550], AFF2 [OMIM*300806]; SNV, CNV Molecular Diagnostics / PCR
Familiärer Brust- und Eierstockkrebs Familiärer Brust- und Eierstockkrebs Molecular Diagnostics / PCR
Fiebersyndrome, periodisch (ADA2, APOA1,WDR1); SNV, CNV Fiebersyndrome, periodisch (ADA2, APOA1,WDR1); 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
Genetisch bedingte Adipositas Genetisch bedingte Adipositas Molecular Diagnostics / PCR
Gliedergürtelmuskeldystrophien Gliedergürtelmuskeldystrophien Molecular Diagnostics / PCR
Glut1-Defizienz-Syndrom Glut1-Defizienz-Syndrom Molecular Diagnostics / PCR
HAMP; erbl. Hämochromatose HAMP; erbl. Hämochromatose Molecular Diagnostics / PCR
HD; Chorea Huntington HD; Chorea Huntington Molecular Diagnostics / PCR
Hereditäre Neuropathie mit Neigung Hereditäre Neuropathie mit Neigung Molecular Diagnostics / PCR
Hereditäre Sensomotorische Neuropathien Hereditäre Sensomotorische Neuropathien Molecular Diagnostics / PCR
Hereditäre spastische Paraparesen Hereditäre spastische Paraparesen Molecular Diagnostics / PCR
Herzfehler, genetisch (AARS2, ABCC9,VCP); SNV, CNV Herzfehler, genetisch (AARS2, ABCC9,VCP); SNV, CNV Molecular Diagnostics / PCR
Hypogonadotroper Hypogonadismus Hypogonadotroper Hypogonadismus Molecular Diagnostics / PCR
Hämophilie A (F8); SNV, CNV Hämophilie A (F8); 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,…, PMS2); SNV, CNV Karzinom (HNPCC) (EPCAM, MLH1, MSH2,…, PMS2); SNV, CNV Molecular Diagnostics / PCR
Karzinom (HNPCC) (EPCAM, MLH1, MSH3, MSH6, PMS2) Karzinom (HNPCC) (EPCAM, MLH1, MSH3, MSH6, PMS2) Molecular Diagnostics / PCR
Klippel-Feil-Syndrom (DLL3, GDF3, GDF6,ZIC3); SNV, CNV Klippel-Feil-Syndrom (DLL3, GDF3, GDF6,ZIC3); SNV, CNV Molecular Diagnostics / PCR
Kolonkarzinom, hereditäres Kolonkarzinom, hereditäres Molecular Diagnostics / PCR
Leukodystrophien, Leukoenzephalopathien Leukodystrophien, Leukoenzephalopathien 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 Lymphatische Malformationen Molecular Diagnostics / PCR
Lynch-Syndrom / Hereditäres Lynch-Syndrom / Hereditäres Molecular Diagnostics / PCR
MD102 (DMPK-Gen) MD102 (DMPK-Gen) Molecular Diagnostics / PCR
MECP2-Gen, RETT Syndrom MECP2-Gen, RETT Syndrom Molecular Diagnostics / PCR
Magen-Ca, unbestimmt (CDH1, EPCAM,PMS2); SNV, CNV Magen-Ca, unbestimmt (CDH1, EPCAM,PMS2); SNV, CNV Molecular Diagnostics / PCR
Magen-Karzinom, diffuses: CDH1 Magen-Karzinom, diffuses: CDH1 Molecular Diagnostics / PCR
Makrozephalie, Großwuchs (AKT1, AKT3,UPF3B); SNV, CNV Makrozephalie, Großwuchs (AKT1, AKT3,UPF3B); SNV, CNV Molecular Diagnostics / PCR
Marfan-Syndrom und Typ 1 Marfan-Syndrom und Typ 1 Molecular Diagnostics / PCR
Maturity-onset diabetes of the Maturity-onset diabetes of the Molecular Diagnostics / PCR
MeCP2; Rett-Syndrom MeCP2; Rett-Syndrom Molecular Diagnostics / PCR
Medulloblastom (APC, BRCA2, CTNNB1,TP53); SNV, CNV Medulloblastom (APC, BRCA2, CTNNB1,TP53); 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
Mukopolysaccharidose (ABCC8, ADAMTSL2,TPP1); SNV, CNV Mukopolysaccharidose (ABCC8, ADAMTSL2,TPP1); SNV, CNV Molecular Diagnostics / PCR
Mukoviszidose Mukoviszidose Molecular Diagnostics / PCR
Multiple endokrine Neoplasie Typ Multiple endokrine Neoplasie Typ Molecular Diagnostics / PCR
Muskeldystrophie Duchenne/Becker Muskeldystrophie Duchenne/Becker Molecular Diagnostics / PCR
Muskeldystrophie, kongenitale Muskeldystrophie, kongenitale Molecular Diagnostics / PCR
Neoplasie Typ 2 (MEN2) Neoplasie Typ 2 (MEN2) Molecular Diagnostics / PCR
Nephrotisches Syndrom (ACE, COQ8B,WT1); SNV, CNV Nephrotisches Syndrom (ACE, COQ8B,WT1); SNV, CNV Molecular Diagnostics / PCR
Neurodegenrative Erkrankungen Neurodegenrative Erkrankungen 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, ATP6V0A2,WNT1); SNV, CNV Osteogenesis imperfecta (OI) (ALPL, ATP6V0A2,WNT1); SNV, CNV 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 Periventrikuläre noduläre Heterotopie Molecular Diagnostics / PCR
Phäochromozytom, Paragangliom Phäochromozytom, Paragangliom Molecular Diagnostics / PCR
Prostata-Ca, unbestimmt (ATM, BRCA2,…, PMS2); SNV, CNV Prostata-Ca, unbestimmt (ATM, BRCA2,…, PMS2); SNV, CNV Molecular Diagnostics / PCR
Proximale Myotone Myopathie Proximale Myotone Myopathie Molecular Diagnostics / PCR
Prämature Ovarialinsuffizienz (POI) Prämature Ovarialinsuffizienz (POI) Molecular Diagnostics / PCR
RET (MEN2) RET (MEN2) Molecular Diagnostics / PCR
Rasopathien, fetales RASopathie-Syndrom Rasopathien, fetales RASopathie-Syndrom Molecular Diagnostics / PCR
Rhythmusstörungen (ABCC9, AKAP9, ANK2,TTN); SNV, CNV Rhythmusstörungen (ABCC9, AKAP9, ANK2,TTN); SNV, CNV Molecular Diagnostics / PCR
SLC40A1-Gen, Hämochromatose SLC40A1-Gen, Hämochromatose Molecular Diagnostics / PCR
SNRPN-Region 15q11-13 UPD15 SNRPN-Region 15q11-13 UPD15 Molecular Diagnostics / PCR
Sensorineutrale Schwerhörigkeit Sensorineutrale Schwerhörigkeit Molecular Diagnostics / PCR
Serratiertes Polyposis-Syndrom Serratiertes Polyposis-Syndrom Molecular Diagnostics / PCR
Small fiber neuropathy (SFN) (ATL1, CAV3,GBA); SNV, CNV Small fiber neuropathy (SFN) (ATL1, CAV3,GBA); SNV, CNV Molecular Diagnostics / PCR
Spinalparalysen und Differenzialdiagnosen Spinalparalysen und Differenzialdiagnosen Molecular Diagnostics / PCR
Spinozerebelläre Ataxie (SCA1, SCA6, SCA7, SCA11): ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Spinozerebelläre Ataxie (SCA1, SCA6, SCA7, SCA11): ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Molecular Diagnostics / PCR
Stoffwechselstörungen inkl. Stoffwechselstörungen inkl. Molecular Diagnostics / PCR
Syndrom und Rett-like-Syndrom Syndrom und Rett-like-Syndrom Molecular Diagnostics / PCR
Syndrom, MCAP-Syndrom (AKT1, ELMO2,VHL); SNV, CNV Syndrom, MCAP-Syndrom (AKT1, ELMO2,VHL); SNV, CNV Molecular Diagnostics / PCR
Syndrom, juvenile myelomonozytäre Syndrom, juvenile myelomonozytäre 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
Tooth Neuropathie Typ 1A (CMT1A, HMSN1A): 17p12 Tooth Neuropathie Typ 1A (CMT1A, HMSN1A): 17p12 Molecular Diagnostics / PCR
Tuberöse Sklerose Typ 1 und Typ Tuberöse Sklerose Typ 1 und Typ Molecular Diagnostics / PCR
Tumorprädisposition (ABRAXAS1, AKT1,XRCC2); SNV, CNV Tumorprädisposition (ABRAXAS1, AKT1,XRCC2); SNV, CNV Molecular Diagnostics / PCR
Tumorprädisposition (AKT1, APC, ATM,TP53); SNV, CNV Tumorprädisposition (AKT1, APC, ATM,TP53); 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
Vermutetes erhöhtes hereditäres Vermutetes erhöhtes hereditäres Molecular Diagnostics / PCR
Wiedemann-Syndrom (BWS): 11p15 Wiedemann-Syndrom (BWS): 11p15 Molecular Diagnostics / PCR
Ziliopathien (ACVR2B, AHI1, ALMS1,ZNF423); SNV, CNV Ziliopathien (ACVR2B, AHI1, ALMS1,ZNF423); SNV, CNV Molecular Diagnostics / PCR
[OMIM*601623]; SNV, CNV [OMIM*601623]; 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
kongenitaler Hyperinsulinismus kongenitaler Hyperinsulinismus Molecular Diagnostics / PCR
spastische Paraplegien (SPG), spastische spastische Paraplegien (SPG), spastische Molecular Diagnostics / PCR
syndromal (ADGRV1, AIFM1, ALMS1,WHRN); SNV, CNV syndromal (ADGRV1, AIFM1, ALMS1,WHRN); SNV, CNV Molecular Diagnostics / PCR
thorakale Aortenerweiterung (ACTA2, COL3A1, FBN1,TGFBR2); SNV, CNV thorakale Aortenerweiterung (ACTA2, COL3A1, FBN1,TGFBR2); SNV, CNV Molecular Diagnostics / PCR
und Differentialdiagnosen (ABHD5, ACADM, ACADS,YARS2); SNV, CNV und Differentialdiagnosen (ABHD5, ACADM, ACADS,YARS2); 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
(Exon 7 und 8), SMN2 (Exon 7 und (Exon 7 und 8), SMN2 (Exon 7 und Other
2143delT, 2184delA, 3272-26A>G, G85E, 621+1G>T, 3659delC, R334W, 1677delTA, 1078delT, E92*, 3905insT, E60*, I336K, 2184insA, A455E, Y1092*) 2143delT, 2184delA, 3272-26A>G, G85E, 621+1G>T, 3659delC, R334W, 1677delTA, 1078delT, E92*, 3905insT, E60*, I336K, 2184insA, A455E, Y1092*) Other
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
Allel), APP (Exon 16 und 17) Allel), APP (Exon 16 und 17) Other
Amyotrophe Lateralsklerose (ALS): Amyotrophe Lateralsklerose (ALS): Other
BAP1, CDC73,VHL); SNV, CNV BAP1, CDC73,VHL); SNV, CNV Other
BMPR1A, MUTYH, NTHL1, POLD1, SMAD4, STK11) BMPR1A, MUTYH, NTHL1, POLD1, SMAD4, STK11) Other
CARD8, CD70,WDR1); SNV, CNV CARD8, CD70,WDR1); SNV, CNV Other
CHCHD10, FUS,…, VCP); SNV, CNV CHCHD10, FUS,…, VCP); SNV, CNV Other
CHEK2, PALB2, PTEN, RAD51C, STK11, TP53) CHEK2, PALB2, PTEN, RAD51C, STK11, TP53) Other
Darmkrebs (CRC), unbestimmt: Darmkrebs (CRC), unbestimmt: Other
Epilepsie (AARS1, ABAT, ACY1,…, SNV, CNV Epilepsie (AARS1, ABAT, ACY1,…, SNV, CNV Other
Fibrillinopathien (FBN1, TGFBR1, SNV, CNV Fibrillinopathien (FBN1, TGFBR1, SNV, CNV Other
Kraniosynostosen (ALPL, ALX1, SNV, CNV Kraniosynostosen (ALPL, ALX1, SNV, CNV Other
Lymphödeme (AKT1, BRAF, CBL,…, SNV, CNV Lymphödeme (AKT1, BRAF, CBL,…, SNV, CNV Other
Mixed Polyposis-Syndrom (HMPS)) Mixed Polyposis-Syndrom (HMPS)) Other
Multi-Locus-Imprinting Defekt (MLID): Multi-Locus-Imprinting Defekt (MLID): Other
Myotone Dystrophie Typ 1 (DM1): Myotone Dystrophie Typ 1 (DM1): Other
Schwerhörigkeit, nicht-syndromal: Schwerhörigkeit, nicht-syndromal: Other
Spinale Muskelatrophie (SMA): Spinale Muskelatrophie (SMA): Other
Spinobulbäre Muskelatrophie (SBMA): Spinobulbäre Muskelatrophie (SBMA): Other
Syndrom (MPPH) (AKT3, CCND2, SNV, CNV Syndrom (MPPH) (AKT3, CCND2, SNV, CNV Other
Wilms-Tumor, Denys-Drash-Syndrom: Wilms-Tumor, Denys-Drash-Syndrom: Other
X-Inaktivierung (XCI): FMR1, AR, X-Inaktivierung (XCI): FMR1, AR, Other
isolierte, Skaphokephalie, isolierte: isolierte, Skaphokephalie, isolierte: Other

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