ScopeMato Nagel Zentrum für Nephrologie und Stoffwechsel Molekulargenetisches Labor
Official name: Facharztpraxis für Innere Medizin/Nephrologie Dr. med. Mato Nagel Zentrum für Nephrologie und Stoffwechsel Praxis Dr. Mato Nagel, Dr. Hansjörg Rothe* *angestellter Arzt Molekulargenetisches Labor
693 capabilities
Accredited since July 2025
Verified Apr 2026
One of 3,039 in Germany
Details
Werner-Seelenbinder-Straße 73
Weißwasser 02943 , Germany
Weißwasser 02943 , Germany
Accreditation
Active
DAkkS
D-ML-13133-01-01
Specialises in molecular genetic testing with extensive capabilities in DNA sequencing including Sanger sequencing and high-throughput sequencing for diagnosis of inherited metabolic and genetic disorders.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13133-01-01
Status
ActiveSince
28 July 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 (693)
| Standard Reference | Description | Category |
|---|---|---|
| 25 OH Vitamin D | 25-OH-Vitamin D | Clinical Chemistry |
| Humanes Wachstumshormon | humanes Wachstumshormon | Clinical Chemistry |
| (EIF2AK3) | (EIF2AK3) | Elemental Analysis |
| Autismus (MECP2) | Autismus (MECP2) | Elemental Analysis |
| GRHPR) | Hyperoxalurie (AGXT, GRHPR) | Elemental Analysis |
| Hyper-IgM-Syndrom (AICDA, CD40, CD40LG, UNG) | Hyper-IgM-Syndrom (AICDA, CD40, CD40LG, UNG) | Elemental Analysis |
| Hyperaldosteronismus (CACNA1D, CACNA1H, CYP11B1, CYP11B2, KCNJ5) | Hyperaldosteronismus (CACNA1D, CACNA1H, CYP11B1, CYP11B2, KCNJ5) | Elemental Analysis |
| Hyperaldosteronismus (CACNA1H, CYP11B1, CYP11B2, KCNJ5) | Hyperaldosteronismus (CACNA1H, CYP11B1, CYP11B2, KCNJ5) | Elemental Analysis |
| Hyperaldosteronismus Typ 1 | Hyperaldosteronismus Typ 1 | Elemental Analysis |
| Hyperalphalipoproteinämie | Hyperalphalipoproteinämie | Elemental Analysis |
| Hypercalciämie (CASR, CYP24A1) | Hypercalciämie (CASR, CYP24A1) | Elemental Analysis |
| Hypercholesterinämie (APOB, LDLR, LDLRAP1, PCSK9) | Hypercholesterinämie (APOB, LDLR, LDLRAP1, PCSK9) | Elemental Analysis |
| Hyperglycinurie (SLC36A2, SLC6A19, SLC6A20) | Hyperglycinurie (SLC36A2, SLC6A19, SLC6A20) | Elemental Analysis |
| Hyperinsulinämische Hypoglycämie | Hyperinsulinämische Hypoglycämie | Elemental Analysis |
| Hyperkatabole Hypoproteinämie | Hyperkatabole Hypoproteinämie | Elemental Analysis |
| Hyperlipämie (APOA1, APOA5, APOC3, APOE, CETP, LCAT, LDLR, LIPC, LIPE, LPL, PCSK9, PPARG) | Hyperlipämie (APOA1, APOA5, APOC3, APOE, CETP, LCAT, LDLR, LIPC, LIPE, LPL, PCSK9, PPARG) | Elemental Analysis |
| Hyperoxalurie (AGXT, GRHPR, HOGA1) | Hyperoxalurie (AGXT, GRHPR, HOGA1) | Elemental Analysis |
| Hyperparathyreoidismus (AP2S1, CASR, CDC73) | Hyperparathyreoidismus (AP2S1, CASR, CDC73) | Elemental Analysis |
| Hyperparathyreoidismus (AP2S1, CASR, CDC73, GCM2, GNA11) | Hyperparathyreoidismus (AP2S1, CASR, CDC73, GCM2, GNA11) | Elemental Analysis |
| Hyperparathyreoidismus (CASR, CDC73, GCM2) | Hyperparathyreoidismus (CASR, CDC73, GCM2) | Elemental Analysis |
| Hyperphosphatämische familiäre | Hyperphosphatämische familiäre | Elemental Analysis |
| Hypertriglyceridämie (ANGPTL4, APOA5, APOE, GPD1, GPIHBP1, LIPC, LIPE, LMF1, LPL) | Hypertriglyceridämie (ANGPTL4, APOA5, APOE, GPD1, GPIHBP1, LIPC, LIPE, LMF1, LPL) | Elemental Analysis |
| Hypertriglyceridämie (APOA5, APOE, GPIHBP1, LIPC, LIPE, LPL) | Hypertriglyceridämie (APOA5, APOE, GPIHBP1, LIPC, LIPE, LPL) | Elemental Analysis |
| Hyperurikämie (ABCG2, REN, UMOD) | Hyperurikämie (ABCG2, REN, UMOD) | Elemental Analysis |
| Hyperurikämie (REN, UMOD) | Hyperurikämie (REN, UMOD) | Elemental Analysis |
| Hypoaldosteronismus (CYP11B2) | Hypoaldosteronismus (CYP11B2) | Elemental Analysis |
| Hypoalphalipoproteinämie (ABCA1, APOA1) | Hypoalphalipoproteinämie (ABCA1, APOA1) | Elemental Analysis |
| Hypobetalipoproteinämie | Hypobetalipoproteinämie | Elemental Analysis |
| Hypobetalipoproteinämie (APOB) | Hypobetalipoproteinämie (APOB) | Elemental Analysis |
| Hypogonadotropischer | Hypogonadotropischer | Elemental Analysis |
| Hypoinsulinämische Hypoglycämie | Hypoinsulinämische Hypoglycämie | Elemental Analysis |
| Hypokaliämische periodische | Hypokaliämische periodische | Elemental Analysis |
| Hypomagnesiämie (CLDN16) | Hypomagnesiämie (CLDN16) | Elemental Analysis |
| Hypomagnesiämie (CLDN16, CLDN19, CNNM2, EGF, EGFR, FXYD2, TRPM6) | Hypomagnesiämie (CLDN16, CLDN19, CNNM2, EGF, EGFR, FXYD2, TRPM6) | Elemental Analysis |
| Hypomagnesiämie (CLDN16, CLDN19, CNNM2, EGF, EGFR, FXYD2, TRPM6, TRPM7) | Hypomagnesiämie (CLDN16, CLDN19, CNNM2, EGF, EGFR, FXYD2, TRPM6, TRPM7) | Elemental Analysis |
| Hypomethylierungs-Syndrom | Hypomethylierungs-Syndrom | Elemental Analysis |
| Unempfindlichkeit (IGF1, IGF1R, IGFALS, SH2B1, STAT5B) | Unempfindlichkeit (IGF1, IGF1R, IGFALS, SH2B1, STAT5B) | Elemental Analysis |
| Unempfindlichkeit (IGF1, IGF1R, IGFALS, STAT5B) | Unempfindlichkeit (IGF1, IGF1R, IGFALS, STAT5B) | Elemental Analysis |
| WAGR-Syndrom (PAX6, WT1) | WAGR-Syndrom (PAX6, WT1) | Elemental Analysis |
| Wachstumshormon-Mangel (BTK, GH1, GHRH, GHRHR, GHSR) | Wachstumshormon-Mangel (BTK, GH1, GHRH, GHRHR, GHSR) | Elemental Analysis |
| Wachstumshormon-Mangel (GH1) | Wachstumshormon-Mangel (GH1) | Elemental Analysis |
| Watson-Syndrom (NF1) | Watson-Syndrom (NF1) | Elemental Analysis |
| Weitwinkelglaukom 1 (ASB10, MYOC, NTF4, OPTN, WDR36) | Weitwinkelglaukom 1 (ASB10, MYOC, NTF4, OPTN, WDR36) | Elemental Analysis |
| Weitwinkelglaukom 3 (CYP1B1, LTBP2) | Weitwinkelglaukom 3 (CYP1B1, LTBP2) | Elemental Analysis |
| Weitwinkelglaukom 3A (CYP1B1) | Weitwinkelglaukom 3A (CYP1B1) | Elemental Analysis |
| Williams-Beuren-Syndrom (ELN) | Williams-Beuren-Syndrom (ELN) | Elemental Analysis |
| Wiskott-Aldrich-Syndrom (WAS) | Wiskott-Aldrich-Syndrom (WAS) | Elemental Analysis |
| Wolcott-Rallison-Syndrom | Wolcott-Rallison-Syndrom | Elemental Analysis |
| Wolfram-Syndrom (CISD2, WFS1) | Wolfram-Syndrom (CISD2, WFS1) | Elemental Analysis |
| Wolfram-Syndrom 1 (WFS1) | Wolfram-Syndrom 1 (WFS1) | Elemental Analysis |
| Wolman-Erkrankung (LIPA) | Wolman-Erkrankung (LIPA) | Elemental Analysis |
| X-chromosomale Veranlagung für | X-chromosomale Veranlagung für | Elemental Analysis |
| X-chromosomale syndromale | X-chromosomale syndromale | Elemental Analysis |
| X-chromosomaler familiärer | X-chromosomaler familiärer | Elemental Analysis |
| Y-chromosomaler familiärer | Y-chromosomaler familiärer | Elemental Analysis |
| Zahnbildungsstörungen (PTH1R) | Zahnbildungsstörungen (PTH1R) | Elemental Analysis |
| Zentraler Diabetes insipidus (AVP) | Zentraler Diabetes insipidus (AVP) | Elemental Analysis |
| Zerebrale Mikroangiopathie mit | Zerebrale Mikroangiopathie mit | Elemental Analysis |
| Zerebroarterielle Amyloidose (APP, CST3, ITM2B) | Zerebroarterielle Amyloidose (APP, CST3, ITM2B) | Elemental Analysis |
| mentale Retardierung 13 (MECP2) | mentale Retardierung 13 (MECP2) | Elemental Analysis |
| (ASL) | Antistreptolysin-O (ASL) | Immunology / Serology |
| Paroxysmale nächtliche | Paroxysmale nächtliche | Immunology / Serology |
| (ABCC8, GCK, GLIS3, INS, KCNJ11, ZFP57) | (ABCC8, GCK, GLIS3, INS, KCNJ11, ZFP57) | Molecular Diagnostics / PCR |
| (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1) | (ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1) | Molecular Diagnostics / PCR |
| (ABCC8, HNF1A, HNF4A) | (ABCC8, HNF1A, HNF4A) | Molecular Diagnostics / PCR |
| (ABHD5, PNPLA2) | (ABHD5, PNPLA2) | Molecular Diagnostics / PCR |
| (ACE, AGT, AGTR1, REN) | Renotubuläre Dysgenesie (ACE, AGT, AGTR1, REN) | Molecular Diagnostics / PCR |
| (ADAMTS13 ) | (ADAMTS13) | Molecular Diagnostics / PCR |
| (ADAMTS13, C3, C4BPA, CD46, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, PIGA, THBD) | (ADAMTS13, C3, C4BPA, CD46, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, PIGA, THBD) | Molecular Diagnostics / PCR |
| (ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, PIGA, THBD) | (ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, PIGA, THBD) | Molecular Diagnostics / PCR |
| (ADRB2) | (ADRB2) | Molecular Diagnostics / PCR |
| (AGPAT2, BSCL2) | (AGPAT2, BSCL2) | Molecular Diagnostics / PCR |
| (AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1) | (AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1) | Molecular Diagnostics / PCR |
| (AIRE, FOXP3) | (AIRE, FOXP3) | Molecular Diagnostics / PCR |
| (AKT2) | (AKT2) | Molecular Diagnostics / PCR |
| (ALDOB) | Fruktoseintoleranz (ALDOB) | Molecular Diagnostics / PCR |
| (ALG9, PMM2) | (ALG9, PMM2) | Molecular Diagnostics / PCR |
| (ALMS1) | Alström-Syndrom (ALMS1) | Molecular Diagnostics / PCR |
| (ALPL, CASR) | (ALPL, CASR) | Molecular Diagnostics / PCR |
| (ALPL, CASR, SLC26A1, TRPV5, ZNF365) | (ALPL, CASR, SLC26A1, TRPV5, ZNF365) | Molecular Diagnostics / PCR |
| (AMN, CUBN) | (AMN, CUBN) | Molecular Diagnostics / PCR |
| (ANGPTL3, APOB) | (ANGPTL3, APOB) | Molecular Diagnostics / PCR |
| (APOC3, CETP) | (APOC3, CETP) | Molecular Diagnostics / PCR |
| (ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4, VIPAS39, VPS33B) | (ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4, VIPAS39, VPS33B) | Molecular Diagnostics / PCR |
| (B2M) | (B2M) | Molecular Diagnostics / PCR |
| (BMP4) | (BMP4) | Molecular Diagnostics / PCR |
| (BSCL2) | Neuropathie Typ 5A (BSCL2) | Molecular Diagnostics / PCR |
| (C1QA, C1QB, C1QC) | Komplement C1q-Mangel (C1QA, C1QB, C1QC) | Molecular Diagnostics / PCR |
| (C1QA, C1QB, C1QC, CFHR1, CFHR3) | (C1QA, C1QB, C1QC, CFHR1, CFHR3) | Molecular Diagnostics / PCR |
| (C3, C5, C7, C8A, C8B, C9, CD46, CFB, CFD, CFH, CFP) | (C3, C5, C7, C8A, C8B, C9, CD46, CFB, CFD, CFH, CFP) | Molecular Diagnostics / PCR |
| (C3, C5, C8A, C8B, C8G, C9, CD46, CFB, CFD, CFH, CFP) | (C3, C5, C8A, C8B, C8G, C9, CD46, CFB, CFD, CFH, CFP) | Molecular Diagnostics / PCR |
| (CD46, CFH, CFHR1, CFHR2, CFHR3, CFI) | C3-Glomerulonephritis (CD46, CFH, CFHR1, CFHR2, CFHR3, CFI) | Molecular Diagnostics / PCR |
| (CDC73) | (CDC73) | Molecular Diagnostics / PCR |
| (CEP290) | (CEP290) | Molecular Diagnostics / PCR |
| (CHD7) | (CHD7) | Molecular Diagnostics / PCR |
| (CLCN5, OCRL) | Morbus Dent (CLCN5, OCRL) | Molecular Diagnostics / PCR |
| (CLCNKB) | (CLCNKB) | Molecular Diagnostics / PCR |
| (CPT1A) | (CPT1A) | Molecular Diagnostics / PCR |
| (CYP11B1, CYP11B2) | (CYP11B1, CYP11B2) | Molecular Diagnostics / PCR |
| (CYP17A1) | (CYP17A1) | Molecular Diagnostics / PCR |
| (CYP3A5) | Hypertonus (CYP3A5) | Molecular Diagnostics / PCR |
| (DHCR7) | (DHCR7) | Molecular Diagnostics / PCR |
| (DIRC2, FLCN, HNF1A, HNF1B, OGG1, RNF139, VHL) | (DIRC2, FLCN, HNF1A, HNF1B, OGG1, RNF139, VHL) | Molecular Diagnostics / PCR |
| (DMP1, ENPP1, FGF23, PHEX) | (DMP1, ENPP1, FGF23, PHEX) | Molecular Diagnostics / PCR |
| (DNMT1, DNMT3A, DNMT3B, KHDC3L, MECP2, NLRP2, NLRP7, ZFP57) | (DNMT1, DNMT3A, DNMT3B, KHDC3L, MECP2, NLRP2, NLRP7, ZFP57) | Molecular Diagnostics / PCR |
| (DNMT3A) | (DNMT3A) | Molecular Diagnostics / PCR |
| (DSTYK, FGF20, ITGA8, PAX2, RET, UPK3A) | (DSTYK, FGF20, ITGA8, PAX2, RET, UPK3A) | Molecular Diagnostics / PCR |
| (DUOX2, DUOXA2, IYD, SLC5A5, TPO) | (DUOX2, DUOXA2, IYD, SLC5A5, TPO) | Molecular Diagnostics / PCR |
| (EYA1) | (EYA1) | Molecular Diagnostics / PCR |
| (EYA1, SIX2, SIX5) | (EYA1, SIX2, SIX5) | Molecular Diagnostics / PCR |
| (EYA1, SIX5) | (EYA1, SIX5) | Molecular Diagnostics / PCR |
| (FGA, FGB, FGG) | Afibrinogenämie (FGA, FGB, FGG) | Molecular Diagnostics / PCR |
| (FGF10) | Syndrom (FGF10) | Molecular Diagnostics / PCR |
| (FGF20, PAX2, RET, UPK3A) | (FGF20, PAX2, RET, UPK3A) | Molecular Diagnostics / PCR |
| (FH): APOB, LDLR, LDLRAP1, PCSK9 | Nierenzellkarzinom (FH) | Molecular Diagnostics / PCR |
| (FLT4) | (FLT4) | Molecular Diagnostics / PCR |
| (GATA2) | Emberger-Syndrom (GATA2) | Molecular Diagnostics / PCR |
| (GATA6, PDX1, PTF1A, RFX6) | (GATA6, PDX1, PTF1A, RFX6) | Molecular Diagnostics / PCR |
| (GLA) | Morbus Fabry (GLA) | Molecular Diagnostics / PCR |
| (GNAS) | Albright-Osteodystrophie (GNAS) | Molecular Diagnostics / PCR |
| (GNAS, STX16) | (GNAS, STX16) | Molecular Diagnostics / PCR |
| (HLA-DQA1) | (HLA-DQA1) | Molecular Diagnostics / PCR |
| (HNF1A) | (HNF1A) | Molecular Diagnostics / PCR |
| (HNF1A, HNF1B, VHL) | (HNF1A, HNF1B, VHL) | Molecular Diagnostics / PCR |
| (HNF1B) | (HNF1B) | Molecular Diagnostics / PCR |
| (HNF1B, UMOD) | (HNF1B, UMOD) | Molecular Diagnostics / PCR |
| (INSR) | nigricans (INSR) | Molecular Diagnostics / PCR |
| (ITGA2) | Glycoprotein 1a-Mangel (ITGA2) | Molecular Diagnostics / PCR |
| (ITGA2B, ITGB3) | (ITGA2B, ITGB3) | Molecular Diagnostics / PCR |
| (KCNA1) | (KCNA1) | Molecular Diagnostics / PCR |
| (KCNJ1) | (KCNJ1) | Molecular Diagnostics / PCR |
| (KCNJ10) | EAST-Syndrom (KCNJ10) | Molecular Diagnostics / PCR |
| (LCT) | Lactasemangel (LCT) | Molecular Diagnostics / PCR |
| (LRP5, PRKCSH, SEC63) | (LRP5, PRKCSH, SEC63) | Molecular Diagnostics / PCR |
| (MBL2) | (MBL2) | Molecular Diagnostics / PCR |
| (MC4R) | (MC4R) | Molecular Diagnostics / PCR |
| (MEFV) | Familiäres Mittelmeerfieber (MEFV) | Molecular Diagnostics / PCR |
| (MYH9) | Epstein-Syndrom (MYH9) | Molecular Diagnostics / PCR |
| (NEK8, NPHP3, PRSS1, SPINK1) | (NEK8, NPHP3, PRSS1, SPINK1) | Molecular Diagnostics / PCR |
| (NKX2-1) | (NKX2-1) | Molecular Diagnostics / PCR |
| (NKX2-5) | (NKX2-5) | Molecular Diagnostics / PCR |
| (NLRP3) | Syndrome (NLRP3) | Molecular Diagnostics / PCR |
| (NR0B2, POMC) | (NR0B2, POMC) | Molecular Diagnostics / PCR |
| (OAT) | Atrophia gyrata (OAT) | Molecular Diagnostics / PCR |
| (OTC) | Mangel (OTC) | Molecular Diagnostics / PCR |
| (PAX6, WT1) | (PAX6, WT1) | Molecular Diagnostics / PCR |
| (PKHD1) | (PKHD1) | Molecular Diagnostics / PCR |
| (PLA2R1) | (PLA2R1) | Molecular Diagnostics / PCR |
| (PMM2) | (PMM2) | Molecular Diagnostics / PCR |
| (PRSS1, SPINK1) | (PRSS1, SPINK1) | Molecular Diagnostics / PCR |
| (PTH1R) | (PTH1R) | Molecular Diagnostics / PCR |
| (RET) | Renale Hypodysplasie/Aplasie (RET) | Molecular Diagnostics / PCR |
| (RXRA, THRB) | (RXRA, THRB) | Molecular Diagnostics / PCR |
| (RXRA, VDR) | (RXRA, VDR) | Molecular Diagnostics / PCR |
| (SALL4) | (SALL4) | Molecular Diagnostics / PCR |
| (SCARB2) | (SCARB2) | Molecular Diagnostics / PCR |
| (SCNN1A, SCNN1B, SCNN1G) | (SCNN1A, SCNN1B, SCNN1G) | Molecular Diagnostics / PCR |
| (SECISBP2, THRA, THRB) | (SECISBP2, THRA, THRB) | Molecular Diagnostics / PCR |
| (SERPINE1) | (SERPINE1) | Molecular Diagnostics / PCR |
| (SHOX ) | Kleinwuchs (SHOX) | Molecular Diagnostics / PCR |
| (SLC16A2) | (SLC16A2) | Molecular Diagnostics / PCR |
| (SLC17A5) | (SLC17A5) | Molecular Diagnostics / PCR |
| (SLC25A15) | (SLC25A15) | Molecular Diagnostics / PCR |
| (SLC26A6) | (SLC26A6) | Molecular Diagnostics / PCR |
| (SLC34A2) | (SLC34A2) | Molecular Diagnostics / PCR |
| (SLC3A1, SLC7A9) | Cystinurie (SLC3A1, SLC7A9) | Molecular Diagnostics / PCR |
| (SLC5A1) | (SLC5A1) | Molecular Diagnostics / PCR |
| (SLC5A2) | Renale Glucosurie (SLC5A2) | Molecular Diagnostics / PCR |
| (SLC7A7) | (SLC7A7) | Molecular Diagnostics / PCR |
| (SLCO1B1) | Statin-Intoleranz (SLCO1B1) | Molecular Diagnostics / PCR |
| (TFAP2A) | (TFAP2A) | Molecular Diagnostics / PCR |
| (TRNE, TRNK, TRNL1, TRNS2) | (TRNE, TRNK, TRNL1, TRNS2) | Molecular Diagnostics / PCR |
| (ZFP57) | (ZFP57) | Molecular Diagnostics / PCR |
| 17-Alpha-Hydroxylase-Mangel | bei 17-alpha-Hydroxylase-Mangel | Molecular Diagnostics / PCR |
| 2 (GJC2) | 2 (GJC2) | Molecular Diagnostics / PCR |
| 2-Mimetika (ADRB2) | 2-Mimetika (ADRB2) | Molecular Diagnostics / PCR |
| 3 (FGF9) | 3 (FGF9) | Molecular Diagnostics / PCR |
| ACTH-unabhängige makronoduläre | ACTH-unabhängige makronoduläre | Molecular Diagnostics / PCR |
| ATTR-Amyloidose (TTR) | ATTR-Amyloidose (TTR) | Molecular Diagnostics / PCR |
| Abetalipoproteinämie (MTTP) | Abetalipoproteinämie (MTTP) | Molecular Diagnostics / PCR |
| Absorption | Glucose-Galactose-Malabsorption | Molecular Diagnostics / PCR |
| Achondroplasie (FGFR3) | Achondroplasie (FGFR3) | Molecular Diagnostics / PCR |
| Achse (LEFTY2) | Achse (LEFTY2) | Molecular Diagnostics / PCR |
| Acoeruloplasminämie/Hypocoerulo | Acoeruloplasminämie/Hypocoerulo | Molecular Diagnostics / PCR |
| Adipositas | Autosomal dominante Adipositas | Molecular Diagnostics / PCR |
| Adipositas | Frühzeitig einsetzende Adipositas | Molecular Diagnostics / PCR |
| Adrenale Insuffizienz mit | Adrenale Insuffizienz mit | Molecular Diagnostics / PCR |
| Agammaglobulinämie, x-chromosomal (BTK) | Agammaglobulinämie, x-chromosomal (BTK) | Molecular Diagnostics / PCR |
| Akro-reno-okuläres Syndrom | Akro-reno-okuläres Syndrom | Molecular Diagnostics / PCR |
| Alagille-Syndrom 2 (NOTCH2) | Alagille-Syndrom 2 (NOTCH2) | Molecular Diagnostics / PCR |
| Allan-Herndon-Dudley-Syndrom | Allan-Herndon-Dudley-Syndrom | Molecular Diagnostics / PCR |
| Alloimmun-Thrombozytopenie | Alloimmun-Thrombozytopenie | Molecular Diagnostics / PCR |
| Alport-Syndrom (COL4A3, COL4A4, COL4A5) | Alport-Syndrom (COL4A3, COL4A4, COL4A5) | Molecular Diagnostics / PCR |
| Alport-Syndrom mit | Alport-Syndrom mit | Molecular Diagnostics / PCR |
| Alzheimer-Erkrankung (APOE, APP, CLU, CYP2D6, HFE) | Alzheimer-Erkrankung (APOE, APP, CLU, CYP2D6, HFE) | Molecular Diagnostics / PCR |
| Alzheimer-Erkrankung (APP) | Alzheimer-Erkrankung (APP) | Molecular Diagnostics / PCR |
| Aminoazidurie (EHHADH, HNF4A, SLC1A1, SLC2A2, SLC3A1, SLC6A18, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC16A1, SLC34A1, SLC36A2) | Aminoazidurie (EHHADH, HNF4A, SLC1A1, SLC2A2, SLC3A1, SLC6A18, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC16A1, SLC34A1, SLC36A2) | Molecular Diagnostics / PCR |
| Aminoazidurie (EHHADH, HNF4A, SLC2A2, SLC3A1, SLC7A7, SLC7A9, SLC16A1, SLC34A1) | Aminoazidurie (EHHADH, HNF4A, SLC2A2, SLC3A1, SLC7A7, SLC7A9, SLC16A1, SLC34A1) | Molecular Diagnostics / PCR |
| Amyloidose vom Finnischen Typ | Amyloidose vom Finnischen Typ | Molecular Diagnostics / PCR |
| Anhidrose (NTRK1) | Anhidrose (NTRK1) | Molecular Diagnostics / PCR |
| Aniridie-Wilms-Tumor-Syndrom | Aniridie-Wilms-Tumor-Syndrom | Molecular Diagnostics / PCR |
| Anosmie (FGF8) | Anosmie (FGF8) | Molecular Diagnostics / PCR |
| Antenatales Bartter-Syndrom Typ | Antenatales Bartter-Syndrom Typ | Molecular Diagnostics / PCR |
| Apert-Syndrom (FGFR2) | Apert-Syndrom (FGFR2) | Molecular Diagnostics / PCR |
| Aplasie des Müllerschen Ganges | Aplasie des Müllerschen Ganges | Molecular Diagnostics / PCR |
| Apolipoprotein-Mangel (APOA1, APOA2, APOA5, APOB, APOC1, APOC2, APOC3, APOE, APOH, APOL1, APOM, CLU) | Apolipoprotein-Mangel (APOA1, APOA2, APOA5, APOB, APOC1, APOC2, APOC3, APOE, APOH, APOL1, APOM, CLU) | Molecular Diagnostics / PCR |
| Apolipoprotein-Mangel (APOA1, APOA2, APOA5, APOB, APOC1, APOC2, APOC3, APOE, APOL1, CLU) | Apolipoprotein-Mangel (APOA1, APOA2, APOA5, APOB, APOC1, APOC2, APOC3, APOE, APOL1, CLU) | Molecular Diagnostics / PCR |
| Apolipoprotein-Mangel (APOC2) | Apolipoprotein-Mangel (APOC2) | Molecular Diagnostics / PCR |
| Apparenter Mineralocortocoid | Apparenter Mineralocortocoid | Molecular Diagnostics / PCR |
| Arachnodaktylie (FBN2) | Arachnodaktylie (FBN2) | Molecular Diagnostics / PCR |
| Argininbernsteinsäure-Krankheit | Argininbernsteinsäure-Krankheit | Molecular Diagnostics / PCR |
| Arteriosklerose (APOB, APOE, HABP2, LDLR, LPA, MTHFR, PON1, SLC3A1) | Arteriosklerose (APOB, APOE, HABP2, LDLR, LPA, MTHFR, PON1, SLC3A1) | Molecular Diagnostics / PCR |
| Arteriosklerose (APOB, APOE, HABP2, LDLR, LPA, MTHFR, SLC3A1) | Arteriosklerose (APOB, APOE, HABP2, LDLR, LPA, MTHFR, SLC3A1) | Molecular Diagnostics / PCR |
| Arts-Syndrom (PRPS1) | Arts-Syndrom (PRPS1) | Molecular Diagnostics / PCR |
| Autoimmune Polyendokrinopathie | Autoimmune Polyendokrinopathie | Molecular Diagnostics / PCR |
| Autosomal dominante | Autosomal dominante | Molecular Diagnostics / PCR |
| Autosomal dominante polyzystische | Autosomal dominante polyzystische | Molecular Diagnostics / PCR |
| Autosomal dominante zerebelläre | Autosomal dominante zerebelläre | Molecular Diagnostics / PCR |
| Autosomal dominanter Protein | Autosomal dominanter Protein | Molecular Diagnostics / PCR |
| Autosomal rezessive | Autosomal rezessive | Molecular Diagnostics / PCR |
| Autosomal rezessive polyzystische | Autosomal rezessive polyzystische | Molecular Diagnostics / PCR |
| Autosomal rezessive spastische | Autosomal rezessive spastische | Molecular Diagnostics / PCR |
| Axenfeld-Rieger-Anomalie (FOXC1) | Axenfeld-Rieger-Anomalie (FOXC1) | Molecular Diagnostics / PCR |
| BNAR-Syndrom (FREM1) | BNAR-Syndrom (FREM1) | Molecular Diagnostics / PCR |
| Bamforth-Lazarus-Syndrom (FOXE1) | Bamforth-Lazarus-Syndrom (FOXE1) | Molecular Diagnostics / PCR |
| Bardet-Biedl-Syndrom (ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP) | Bardet-Biedl-Syndrom (ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP) | Molecular Diagnostics / PCR |
| Bartter-Syndrom (BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, SLC12A1) | Bartter-Syndrom (BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, SLC12A1) | Molecular Diagnostics / PCR |
| Bartter-Syndrom (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1) | Bartter-Syndrom (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1) | Molecular Diagnostics / PCR |
| Basalmembran (COL4A3, COL4A4, COL4A5) | Basalmembran (COL4A3, COL4A4, COL4A5) | Molecular Diagnostics / PCR |
| Basalmembran (PXDN) | Basalmembran (PXDN) | Molecular Diagnostics / PCR |
| Basedow-Krankheit (GC) | Basedow-Krankheit (GC) | Molecular Diagnostics / PCR |
| Benigne Hyperproreninämie (REN) | Benigne Hyperproreninämie (REN) | Molecular Diagnostics / PCR |
| Bernard-Soulier-Syndrom (GP1BA, GP1BB, GP9) | Bernard-Soulier-Syndrom (GP1BA, GP1BB, GP9) | Molecular Diagnostics / PCR |
| Blomstrand-Chondrodysplasie | Blomstrand-Chondrodysplasie | Molecular Diagnostics / PCR |
| Blutung (COL4A1, COL4A2) | Blutung (COL4A1, COL4A2) | Molecular Diagnostics / PCR |
| Branchio-Okulo-Faziales Syndrom | Branchio-okulo-faziales Syndrom | Molecular Diagnostics / PCR |
| Branchio-oto-renale Dysplasie | Branchio-oto-renale Dysplasie | Molecular Diagnostics / PCR |
| Branchio-oto-renale Dysplasie 1 | Branchio-oto-renale Dysplasie 1 | Molecular Diagnostics / PCR |
| Branchiootisches Syndrom (EYA1, SIX1) | Branchiootisches Syndrom (EYA1, SIX1) | Molecular Diagnostics / PCR |
| Brunner-Syndrom (MAOA) | Brunner-Syndrom (MAOA) | Molecular Diagnostics / PCR |
| C3-Glomerulonephritis (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, PIGA, THBD) | C3-Glomerulonephritis (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, PIGA, THBD) | Molecular Diagnostics / PCR |
| C3-Glomerulonephritis (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, PIGA, THBD) | C3-Glomerulonephritis (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, PIGA, THBD) | Molecular Diagnostics / PCR |
| CFHR5-Nephropathie (CFHR5) | CFHR5-Nephropathie (CFHR5) | Molecular Diagnostics / PCR |
| CHARGE-Syndrom (CHD7, SEMA3E) | CHARGE-Syndrom (CHD7, SEMA3E) | Molecular Diagnostics / PCR |
| CINCA-Syndrom (NLRP3) | CINCA-Syndrom (NLRP3) | Molecular Diagnostics / PCR |
| COACH-Syndrom (CC2D2A, RPGRIP1L, TMEM67) | COACH-Syndrom (CC2D2A, RPGRIP1L, TMEM67) | Molecular Diagnostics / PCR |
| CR1-Mangel (CR1) | CR1-Mangel (CR1) | Molecular Diagnostics / PCR |
| Caroli-Erkrankung (PKHD1) | Caroli-Erkrankung (PKHD1) | Molecular Diagnostics / PCR |
| Chondrodysplasie (PTH1R) | Chondrodysplasie (PTH1R) | Molecular Diagnostics / PCR |
| Choreoathetose mit Hypothyreose | Choreoathetose mit Hypothyreose | Molecular Diagnostics / PCR |
| Chylomikronämie (APOA5, APOC2, APOE, GPIHBP1, LPL) | Chylomikronämie (APOA5, APOC2, APOE, GPIHBP1, LPL) | Molecular Diagnostics / PCR |
| Chylomikronämie (APOC2, LPL) | Chylomikronämie (APOC2, LPL) | Molecular Diagnostics / PCR |
| Citrullinämie (ASS1, SLC25A13) | Citrullinämie (ASS1, SLC25A13) | Molecular Diagnostics / PCR |
| Coenzym Q10-Mangel (COQ2, COQ6, COQ8A, COQ9, PDSS1, PDSS2) | Coenzym Q10-Mangel (COQ2, COQ6, COQ8A, COQ9, PDSS1, PDSS2) | Molecular Diagnostics / PCR |
| Cofaktor 2-Mangel (SERPIND1) | Cofaktor 2-Mangel (SERPIND1) | Molecular Diagnostics / PCR |
| Conn-Syndrom (CACNA1D, CACNA1H, CTNNB1, KCNJ5) | Conn-Syndrom (CACNA1D, CACNA1H, CTNNB1, KCNJ5) | Molecular Diagnostics / PCR |
| Conn-Syndrom (CACNA1H, KCNJ5) | Conn-Syndrom (CACNA1H, KCNJ5) | Molecular Diagnostics / PCR |
| Coumarin-Resistenz (VKORC1, CYP2A6, CYP2C9, CYP4F2) | Coumarin-Resistenz (VKORC1, CYP2A6, CYP2C9, CYP4F2) | Molecular Diagnostics / PCR |
| Crigler-Najjar-Syndrom (UGT1A) | Crigler-Najjar-Syndrom (UGT1A) | Molecular Diagnostics / PCR |
| Crouzon-Syndrom (FGFR3) | Crouzon-Syndrom (FGFR3) | Molecular Diagnostics / PCR |
| Cystinose (CTNS) | Cystinose (CTNS) | Molecular Diagnostics / PCR |
| DEND-Syndrom (KCNJ11) | DEND-Syndrom (KCNJ11) | Molecular Diagnostics / PCR |
| Darmerkrankungen (SEL1L, ABCB1) | Darmerkrankungen (SEL1L, ABCB1) | Molecular Diagnostics / PCR |
| Dense Deposit Disease (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, PIGA, THBD) | Dense Deposit Disease (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, DGKE, PIGA, THBD) | Molecular Diagnostics / PCR |
| Dense Deposit Disease (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, PIGA, THBD) | Dense Deposit Disease (ADAMTS13, C1QA, C1QB, C1QC, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CLU, PIGA, THBD) | Molecular Diagnostics / PCR |
| Dense Deposit Disease (CD46, CFH, CFHR1, CFHR2, CFHR3, CFI) | Dense Deposit Disease (CD46, CFH, CFHR1, CFHR2, CFHR3, CFI) | Molecular Diagnostics / PCR |
| Denys-Drash-Syndrom (WT1) | Denys-Drash-Syndrom (WT1) | Molecular Diagnostics / PCR |
| Diabetes (UCP3) | Diabetes (UCP3) | Molecular Diagnostics / PCR |
| Diabetes mellitus mit | Diabetes mellitus mit | Molecular Diagnostics / PCR |
| Diabetische Nephropathie (ACE, AGT) | Diabetische Nephropathie (ACE, AGT) | Molecular Diagnostics / PCR |
| Diabetische Nephropathie (ACE, AGT, AKR1B1) | Diabetische Nephropathie (ACE, AGT, AKR1B1) | Molecular Diagnostics / PCR |
| Diabetische Retinopathie (PON1, VEGFA) | Diabetische Retinopathie (PON1, VEGFA) | Molecular Diagnostics / PCR |
| Dicarboxyl-Aminoazidurie (SLC1A1) | Dicarboxyl-Aminoazidurie (SLC1A1) | Molecular Diagnostics / PCR |
| Dihydroxyadenin-Urolithiasis (APRT) | Dihydroxyadenin-Urolithiasis (APRT) | Molecular Diagnostics / PCR |
| Dilatative Kardiomyopathie 1A | Dilatative Kardiomyopathie 1A | Molecular Diagnostics / PCR |
| Donnai-Barrow-Syndrom (LRP2) | Donnai-Barrow-Syndrom (LRP2) | Molecular Diagnostics / PCR |
| Dubin-Johnson-Syndrom (ABCC2) | Dubin-Johnson-Syndrom (ABCC2) | Molecular Diagnostics / PCR |
| Dyschondrosteosis Leri-Weill | Dyschondrosteosis Leri-Weill | Molecular Diagnostics / PCR |
| Dyschondrosteosis Léri-Weill | Dyschondrosteosis Léri-Weill | Molecular Diagnostics / PCR |
| Dysfibrinogenämie (FGA, FGB, FGG) | Dysfibrinogenämie (FGA, FGB, FGG) | Molecular Diagnostics / PCR |
| Dysmorphien (FOXP1) | Dysmorphien (FOXP1) | Molecular Diagnostics / PCR |
| Dysplasie (NPHP3) | Dysplasie (NPHP3) | Molecular Diagnostics / PCR |
| Dysplasie mit | Renale Dysplasie mit | Molecular Diagnostics / PCR |
| Eculizumab (C5) | Eculizumab (C5) | Molecular Diagnostics / PCR |
| Editierfunktion (APOBEC3B, APOBEC3G, APOBEC3H) | Editierfunktion (APOBEC3B, APOBEC3G, APOBEC3H) | Molecular Diagnostics / PCR |
| Eiken-Syndrom (PTH1R) | Eiken-Syndrom (PTH1R) | Molecular Diagnostics / PCR |
| Eosinophiler Peroxidase-Mangel | Eosinophiler Peroxidase-Mangel | Molecular Diagnostics / PCR |
| Epidermolysis bullosa (ITGB4) | Epidermolysis bullosa (ITGB4) | Molecular Diagnostics / PCR |
| Epidermolysis bullosa und | Epidermolysis bullosa und | Molecular Diagnostics / PCR |
| Epigenetische Dyslipidämie (ABCG1, CPT1A, SREBF1, TNNT1) | Epigenetische Dyslipidämie (ABCG1, CPT1A, SREBF1, TNNT1) | Molecular Diagnostics / PCR |
| Erbliche Anfälligkeit für | Erbliche Anfälligkeit für | Molecular Diagnostics / PCR |
| Erbliche Anfälligkeit für akute | Erbliche Anfälligkeit für akute | Molecular Diagnostics / PCR |
| Erbliche Diabetesneigung (IRS1, MAPK8IP1, PDX1, SH2B1, TBC1D1) | Erbliche Diabetesneigung (IRS1, MAPK8IP1, PDX1, SH2B1, TBC1D1) | Molecular Diagnostics / PCR |
| Erbliche Diabetesneigung (IRS1, PDX1) | Erbliche Diabetesneigung (IRS1, PDX1) | Molecular Diagnostics / PCR |
| Erbliche Pankreaserkrankungen | Erbliche Pankreaserkrankungen | Molecular Diagnostics / PCR |
| Erkrankungen (F2, F5) | Erkrankungen (F2, F5) | Molecular Diagnostics / PCR |
| Erkrankungen (SERPINC1) | Erkrankungen (SERPINC1) | Molecular Diagnostics / PCR |
| Erkrankungen der glomerulären | Erkrankungen der glomerulären | Molecular Diagnostics / PCR |
| Erwachsenentyp der | Erwachsenentyp der | Molecular Diagnostics / PCR |
| Erythrotrichie und Fettsucht | Erythrotrichie und Fettsucht | Molecular Diagnostics / PCR |
| Exzess (HSD11B2) | Exzess (HSD11B2) | Molecular Diagnostics / PCR |
| F13B) | Faktor XIII B-Mangel (F13B) | Molecular Diagnostics / PCR |
| FGF23-induzierte | FGF23-induzierte | Molecular Diagnostics / PCR |
| Faktor XII-Mangel (F12) | Faktor XII-Mangel (F12) | Molecular Diagnostics / PCR |
| Faktor XIII A-Mangel (F13A1) | Faktor XIII A-Mangel (F13A1) | Molecular Diagnostics / PCR |
| Familiäre | Hypercholesterinämie, familiäre | Molecular Diagnostics / PCR |
| Familiäre Erythrozytose 2 (VHL) | Familiäre Erythrozytose 2 (VHL) | Molecular Diagnostics / PCR |
| Familiäre hypocalciurische | Familiäre hypocalciurische | Molecular Diagnostics / PCR |
| Familiäre partielle Lipodystrophie | Familiäre partielle Lipodystrophie | Molecular Diagnostics / PCR |
| Familiäre und sporadische | Familiäre und sporadische | Molecular Diagnostics / PCR |
| Familiäres Mittelmeerfieber (MEFV, NOD2, SAA1, TNFRSF1A) | Familiäres Mittelmeerfieber (MEFV, NOD2, SAA1, TNFRSF1A) | Molecular Diagnostics / PCR |
| Familiäres kälteinduziertes | Familiäres kälteinduziertes | Molecular Diagnostics / PCR |
| Fanconi-Bickel-Syndrom (SLC2A2) | Fanconi-Bickel-Syndrom (SLC2A2) | Molecular Diagnostics / PCR |
| Fanconi-Syndrom (EHHADH, HNF4A, SLC34A1) | Fanconi-Syndrom (EHHADH, HNF4A, SLC34A1) | Molecular Diagnostics / PCR |
| Fanconi-Typ (CLCN5, OCRL, SLC34A1) | Fanconi-Typ (CLCN5, OCRL, SLC34A1) | Molecular Diagnostics / PCR |
| Fibrodysplasia ossificans | Fibrodysplasia ossificans | Molecular Diagnostics / PCR |
| Fibronectin-Glomerulopathie (FN1) | Fibronectin-Glomerulopathie (FN1) | Molecular Diagnostics / PCR |
| Fischaugen-Erkrankung (LCAT) | Fischaugen-Erkrankung (LCAT) | Molecular Diagnostics / PCR |
| Fokal segmentale | Fokal segmentale | Molecular Diagnostics / PCR |
| Fraser-Syndrom (FRAS1, FREM2, GRIP1) | Fraser-Syndrom (FRAS1, FREM2, GRIP1) | Molecular Diagnostics / PCR |
| Frasier-Syndrom (WT1) | Frasier-Syndrom (WT1) | Molecular Diagnostics / PCR |
| Fruktosemalabsorption (SLC2A5) | Fruktosemalabsorption (SLC2A5) | Molecular Diagnostics / PCR |
| Fruktosurie (KHK) | Fruktosurie (KHK) | Molecular Diagnostics / PCR |
| Galactosämie (GALT) | Galactosämie (GALT) | Molecular Diagnostics / PCR |
| Generalisierte Lipodystrophie | Generalisierte Lipodystrophie | Molecular Diagnostics / PCR |
| Generalisierte TRH-Resistenz (TRHR) | Generalisierte TRH-Resistenz (TRHR) | Molecular Diagnostics / PCR |
| Generalisierte arterielle Verkalkung | Generalisierte arterielle Verkalkung | Molecular Diagnostics / PCR |
| Genetisch bedingte | Genetisch bedingte | Molecular Diagnostics / PCR |
| Genetischer BMI-Faktor 14 (FTO) | Genetischer BMI-Faktor 14 (FTO) | Molecular Diagnostics / PCR |
| Genloci (G6PC2, GCKR) | Genloci (G6PC2, GCKR) | Molecular Diagnostics / PCR |
| Gerinnungsfaktorenmangel (GGCX) | Gerinnungsfaktorenmangel (GGCX) | Molecular Diagnostics / PCR |
| Gesichtsfehlbildungen (DNMT3B) | Gesichtsfehlbildungen (DNMT3B) | Molecular Diagnostics / PCR |
| Gestationsdiabetes (TRPM6) | Gestationsdiabetes (TRPM6) | Molecular Diagnostics / PCR |
| Gestörte Steroidsynthese aufgrund | Gestörte Steroidsynthese aufgrund | Molecular Diagnostics / PCR |
| Gilbert-Syndrom (UGT1A) | Gilbert-Syndrom (UGT1A) | Molecular Diagnostics / PCR |
| Gitelman-Syndrom (SLC12A3) | Gitelman-Syndrom (SLC12A3) | Molecular Diagnostics / PCR |
| Glanzmann Thrombasthenie | Glanzmann-Thrombasthenie | Molecular Diagnostics / PCR |
| Glomerulonephritis (CXCR1) | Glomerulonephritis (CXCR1) | Molecular Diagnostics / PCR |
| Glomerulonephritis (MPGN) | Glomerulonephritis (MPGN) | Molecular Diagnostics / PCR |
| Glomerulonephritis (MPGN) (CD46, CFH, CFHR1, CFHR2, CFHR3, CFI) | Glomerulonephritis (MPGN) (CD46, CFH, CFHR1, CFHR2, CFHR3, CFI) | Molecular Diagnostics / PCR |
| Glomerulonephritis: ID103 | Membranöse Glomerulonephritis | Molecular Diagnostics / PCR |
| Glomerulosklerose (FSGS) (ACTN4, ALG13, APOL1, ARHGAP24, CD2AP, CLU, INF2, ITGA9, LAMA5, MYO1E, NXF5, PAX2, TRPC6) | Glomerulosklerose (FSGS) (ACTN4, ALG13, APOL1, ARHGAP24, CD2AP, CLU, INF2, ITGA9, LAMA5, MYO1E, NXF5, PAX2, TRPC6) | Molecular Diagnostics / PCR |
| Glomerulosklerose (FSGS) (ACTN4, APOL1, CD2AP, CLU, INF2, MYO1E, PAX2, TRPC6) | Glomerulosklerose (FSGS) (ACTN4, APOL1, CD2AP, CLU, INF2, MYO1E, PAX2, TRPC6) | Molecular Diagnostics / PCR |
| Glomerulozystische | Glomerulozystische | Molecular Diagnostics / PCR |
| Glukokortikoid-Resistenz (NR3C1) | Glukokortikoid-Resistenz (NR3C1) | Molecular Diagnostics / PCR |
| Glukokortikoid-getriggerter | Glukokortikoid-getriggerter | Molecular Diagnostics / PCR |
| Glycogenspeicherkrankheit 1 (G6PC, SLC37A4) | Glycogenspeicherkrankheit 1 (G6PC, SLC37A4) | Molecular Diagnostics / PCR |
| Goodpasture-Syndrom (COL4A3, COL4A5) | Goodpasture-Syndrom (COL4A3, COL4A5) | Molecular Diagnostics / PCR |
| HADH-Mangel (HADH) | HADH-Mangel (HADH) | Molecular Diagnostics / PCR |
| HANAC-Syndrom (COL4A1, COL4A2) | HANAC-Syndrom (COL4A1, COL4A2) | Molecular Diagnostics / PCR |
| HDR-Syndrom (GATA3) | HDR-Syndrom (GATA3) | Molecular Diagnostics / PCR |
| HIV-Resistenz (CCR5, CXCR1) | HIV-Resistenz (CCR5, CXCR1) | Molecular Diagnostics / PCR |
| Hajdu-Cheney-Syndrom (NOTCH2) | Hajdu-Cheney-Syndrom (NOTCH2) | Molecular Diagnostics / PCR |
| Hartnup-Erkrankung (SLC6A19) | Hartnup-Erkrankung (SLC6A19) | Molecular Diagnostics / PCR |
| Hennekam-Syndrom (CCBE1) | Hennekam-Syndrom (CCBE1) | Molecular Diagnostics / PCR |
| Hepatischer CPT-Mangel Typ 1A | Hepatischer CPT-Mangel Typ 1A | Molecular Diagnostics / PCR |
| Hepatorenale Tyrosinämie (FAH) | Hepatorenale Tyrosinämie (FAH) | Molecular Diagnostics / PCR |
| Hereditäre Leiomyomatose mit | Hereditäre Leiomyomatose mit | Molecular Diagnostics / PCR |
| Hereditäre Myokymie Typ 1 | Hereditäre Myokymie Typ 1 | Molecular Diagnostics / PCR |
| Hereditäre sensorisch-autonome | Hereditäre sensorisch-autonome | Molecular Diagnostics / PCR |
| Hereditäre sensorische Neuropathie | Hereditäre sensorische Neuropathie | Molecular Diagnostics / PCR |
| Hereditäres Angioödem (SERPING1, F12) | Hereditäres Angioödem (SERPING1, F12) | Molecular Diagnostics / PCR |
| Hereditäres Glaukom (OPA1) | Hereditäres Glaukom (OPA1) | Molecular Diagnostics / PCR |
| Hereditäres Lymphödem (FLT4, FOXC2, GJC2, KIF11) | Hereditäres Lymphödem (FLT4, FOXC2, GJC2, KIF11) | Molecular Diagnostics / PCR |
| Hereditäres Lymphödem (VEGFC) | Hereditäres Lymphödem (VEGFC) | Molecular Diagnostics / PCR |
| Hirnmalformation mit | Hirnmalformation mit | Molecular Diagnostics / PCR |
| Histamin-Intoleranz (AOC1, HNMT, MAOA, MAOB) | Histamin-Intoleranz (AOC1, HNMT, MAOA, MAOB) | Molecular Diagnostics / PCR |
| Homocitrullinurie-Syndrom | Homocitrullinurie-Syndrom | Molecular Diagnostics / PCR |
| Homozysteinurie und | Homozysteinurie und | Molecular Diagnostics / PCR |
| Humorale paraneoplastische | Humorale paraneoplastische | Molecular Diagnostics / PCR |
| Hyperbilirubinämie (SLCO1B1, SLCO1B3, UGT1A) | Hyperbilirubinämie (SLCO1B1, SLCO1B3, UGT1A) | Molecular Diagnostics / PCR |
| Hyperbilirubinämie (UGT1A) | Hyperbilirubinämie (UGT1A) | Molecular Diagnostics / PCR |
| Hypercalciämie (PTHLH) | Hypercalciämie (PTHLH) | Molecular Diagnostics / PCR |
| Hypercalciämie Typ 1 (CASR) | Hypercalciämie Typ 1 (CASR) | Molecular Diagnostics / PCR |
| Hypercalciämie Typ 3 (AP2S1) | Hypercalciämie Typ 3 (AP2S1) | Molecular Diagnostics / PCR |
| Hypercholesterinämie 1 (LDLR) | Hypercholesterinämie 1 (LDLR) | Molecular Diagnostics / PCR |
| Hyperparathyroidismus (KL) | Hyperparathyroidismus (KL) | Molecular Diagnostics / PCR |
| Hyperthyreose (TSHR) | Hyperthyreose (TSHR) | Molecular Diagnostics / PCR |
| Hypertonus (NR3C1) | Hypertonus (NR3C1) | Molecular Diagnostics / PCR |
| Hypertonus (NR3C2) | Hypertonus (NR3C2) | Molecular Diagnostics / PCR |
| Hyperurikämie und Isosthenurie | Hyperurikämie und Isosthenurie | Molecular Diagnostics / PCR |
| Hypogonadismus ohne Anosmie | Hypogonadismus ohne Anosmie | Molecular Diagnostics / PCR |
| Hypomyelinisierte Leukodystrophy | Hypomyelinisierte Leukodystrophy | Molecular Diagnostics / PCR |
| Hypoparathyreoidismus | Pseudohypoparathyreoidismus | Molecular Diagnostics / PCR |
| Hypoparathyreoidismus (AP2S1, CASR) | Hypoparathyreoidismus (AP2S1, CASR) | Molecular Diagnostics / PCR |
| Hypoparathyreoidismus (AP2S1, CASR, GCM2, GNA11, PTH) | Hypoparathyreoidismus (AP2S1, CASR, GCM2, GNA11, PTH) | Molecular Diagnostics / PCR |
| Hypoparathyreoidismus (CASR, GCM2, PTH) | Hypoparathyreoidismus (CASR, GCM2, PTH) | Molecular Diagnostics / PCR |
| Hypophosphatasie (ALPL) | Hypophosphatasie (ALPL) | Molecular Diagnostics / PCR |
| Hypophosphatämische Rachitis | hypophosphatämische Rachitis | Molecular Diagnostics / PCR |
| Hypophysenadenome (CDH23) | Hypophysenadenome (CDH23) | Molecular Diagnostics / PCR |
| Hypopituitarismus und Diabetes | Hypopituitarismus und Diabetes | Molecular Diagnostics / PCR |
| Hämochromatose (BMP2, FTH1, HAMP, HFE, HFE2, SLC40A1, TFR2) | Hämochromatose (BMP2, FTH1, HAMP, HFE, HFE2, SLC40A1, TFR2) | Molecular Diagnostics / PCR |
| Hämochromatose (HAMP, HFE, HFE2, SLC40A1, TFR2) | Hämochromatose (HAMP, HFE, HFE2, SLC40A1, TFR2) | Molecular Diagnostics / PCR |
| Hämoglobinurie (PIGA) | Hämoglobinurie (PIGA) | Molecular Diagnostics / PCR |
| Hämolytisch Urämisches Syndrom | Hämolytisch Urämisches Syndrom | Molecular Diagnostics / PCR |
| IVIC-Syndrom (SALL4) | IVIC-Syndrom (SALL4) | Molecular Diagnostics / PCR |
| IgA-Nephropathie (CFHR1, CFHR3, CFHR5) | IgA-Nephropathie (CFHR1, CFHR3, CFHR5) | Molecular Diagnostics / PCR |
| IgA-Nephropathie (CFHR1, CFHR3, CFHR5, SPRY2) | IgA-Nephropathie (CFHR1, CFHR3, CFHR5, SPRY2) | Molecular Diagnostics / PCR |
| Imerslund-Grasbeck-Syndrom | Imerslund-Grasbeck-Syndrom | Molecular Diagnostics / PCR |
| Iminoglycinurie (SLC36A2, SLC6A19, SLC6A20) | Iminoglycinurie (SLC36A2, SLC6A19, SLC6A20) | Molecular Diagnostics / PCR |
| Immundefekt (GATA2, STAT1) | Immundefekt (GATA2, STAT1) | Molecular Diagnostics / PCR |
| Immundefizienz | Instabilität mit Immundefizienz | Molecular Diagnostics / PCR |
| Infantile | Infantile | Molecular Diagnostics / PCR |
| Infantiles kapilläres Hämangiom | Infantiles kapilläres Hämangiom | Molecular Diagnostics / PCR |
| Inkludionskörpermyopathie 2 (GNE) | Inkludionskörpermyopathie 2 (GNE) | Molecular Diagnostics / PCR |
| Insulinresistenz (CIDEC, ENPP1, IRS1, IRS2, PPARG) | Insulinresistenz (CIDEC, ENPP1, IRS1, IRS2, PPARG) | Molecular Diagnostics / PCR |
| Insulinresistenz und Acanthosis | Insulinresistenz und Acanthosis | Molecular Diagnostics / PCR |
| Intelligenzminderung | Syndrom der Intelligenzminderung | Molecular Diagnostics / PCR |
| Ivemark-Syndrom (NEK8, NPHP3) | Ivemark-Syndrom (NEK8, NPHP3) | Molecular Diagnostics / PCR |
| Joubert-Syndrom (AHI1, CC2D2A, RPGRIP1L, SUFU, TMEM67, TTC21B) | Joubert-Syndrom (AHI1, CC2D2A, RPGRIP1L, SUFU, TMEM67, TTC21B) | Molecular Diagnostics / PCR |
| Juvenile myelomonozytäre | Juvenile myelomonozytäre | Molecular Diagnostics / PCR |
| Kabuki-Syndrom (KDM6A, KMT2D) | Kabuki-Syndrom (KDM6A, KMT2D) | Molecular Diagnostics / PCR |
| Karzinom der Nebenschilddrüse | Karzinom der Nebenschilddrüse | Molecular Diagnostics / PCR |
| Kelley-Seegmiller-Syndrom (HPRT) | Kelley-Seegmiller-Syndrom (HPRT) | Molecular Diagnostics / PCR |
| Kelley-Seegmiller-Syndrom (HPRT1) | Kelley-Seegmiller-Syndrom (HPRT1) | Molecular Diagnostics / PCR |
| Kenny-Caffey-Syndrom (TBCE) | Kenny-Caffey-Syndrom (TBCE) | Molecular Diagnostics / PCR |
| Klassisches Bartter-Syndrom | Klassisches Bartter-Syndrom | Molecular Diagnostics / PCR |
| Knobloch-Syndrom 1 (COL18A1) | Knobloch-Syndrom 1 (COL18A1) | Molecular Diagnostics / PCR |
| Kohlenhydratstoffwechsels (GCKR, GPD1, MLXIPL, TRIB1) | Kohlenhydratstoffwechsels (GCKR, GPD1, MLXIPL, TRIB1) | Molecular Diagnostics / PCR |
| Komplement C1r/C1s-Mangel (C1R) | Komplement C1r/C1s-Mangel (C1R) | Molecular Diagnostics / PCR |
| Komplement C1s-Mangel (C1S) | Komplement C1s-Mangel (C1S) | Molecular Diagnostics / PCR |
| Komplement C2-Mangel (C2) | Komplement C2-Mangel (C2) | Molecular Diagnostics / PCR |
| Komplement C3-Mangel (C3) | Komplement C3-Mangel (C3) | Molecular Diagnostics / PCR |
| Komplement C4-Mangel (C4A, C4B, SERPING1) | Komplement C4-Mangel (C4A, C4B, SERPING1) | Molecular Diagnostics / PCR |
| Komplement C4-Mangel (C4A, SERPING1) | Komplement C4-Mangel (C4A, SERPING1) | Molecular Diagnostics / PCR |
| Komplement C5-Mangel (C5) | Komplement C5-Mangel (C5) | Molecular Diagnostics / PCR |
| Komplement C6-Mangel (C6) | Komplement C6-Mangel (C6) | Molecular Diagnostics / PCR |
| Komplement C7-Mangel (C7) | Komplement C7-Mangel (C7) | Molecular Diagnostics / PCR |
| Komplement C8-Mangel (C8A, C8B) | Komplement C8-Mangel (C8A, C8B) | Molecular Diagnostics / PCR |
| Komplement C8-Mangel (C8A, C8B, C8G) | Komplement C8-Mangel (C8A, C8B, C8G) | Molecular Diagnostics / PCR |
| Komplement C9-Mangel (C9) | Komplement C9-Mangel (C9) | Molecular Diagnostics / PCR |
| Komplementfaktor D-Mangel (CFD) | Komplementfaktor D-Mangel (CFD) | Molecular Diagnostics / PCR |
| Komplementfaktor I-Mangel (CFI) | Komplementfaktor I-Mangel (CFI) | Molecular Diagnostics / PCR |
| Kongenitale Anomalien der Niere | Kongenitale Anomalien der Niere | Molecular Diagnostics / PCR |
| Kongenitale Glykosilierungsstörung | Kongenitale Glykosilierungsstörung | Molecular Diagnostics / PCR |
| Kongenitale Herzfehlbildungen | Kongenitale Herzfehlbildungen | Molecular Diagnostics / PCR |
| Kongenitale Hypothyreose ohne | Kongenitale Hypothyreose ohne | Molecular Diagnostics / PCR |
| Kongenitale adrenale Hyperplasie | Kongenitale adrenale Hyperplasie | Molecular Diagnostics / PCR |
| Kongenitaler hypogonadotroper | Kongenitaler hypogonadotroper | Molecular Diagnostics / PCR |
| Kowarski-Syndrom (GH1) | Kowarski-Syndrom (GH1) | Molecular Diagnostics / PCR |
| Krankheit (INF2) | Krankheit (INF2) | Molecular Diagnostics / PCR |
| Krankheit (INF2, PRPS1) | Krankheit (INF2, PRPS1) | Molecular Diagnostics / PCR |
| L-Ferritin-Mangel (FTL) | L-Ferritin-Mangel (FTL) | Molecular Diagnostics / PCR |
| Lakrimo-aurikulo-dento-digitales | Lakrimo-aurikulo-dento-digitales | Molecular Diagnostics / PCR |
| Laktoseintoleranz (LCT, MCM6) | Laktoseintoleranz (LCT, MCM6) | Molecular Diagnostics / PCR |
| Langer-Mesomelie (SHOX) | Langer-Mesomelie (SHOX) | Molecular Diagnostics / PCR |
| Laron-Syndrom (GHR) | Laron-Syndrom (GHR) | Molecular Diagnostics / PCR |
| Lebersche kongenitale Amaurose | Lebersche kongenitale Amaurose | Molecular Diagnostics / PCR |
| Legius Syndrom (SPRED1) | Legius-Syndrom (SPRED1) | Molecular Diagnostics / PCR |
| Leiomyomatose (COL4A5) | Leiomyomatose (COL4A5) | Molecular Diagnostics / PCR |
| Leiomyomatose (COL4A5, COL4A6) | Leiomyomatose (COL4A5, COL4A6) | Molecular Diagnostics / PCR |
| Leprechaunismus (INSR) | Leprechaunismus (INSR) | Molecular Diagnostics / PCR |
| Lesch-Nyhan-Syndrom (HPRT1) | Lesch-Nyhan-Syndrom (HPRT1) | Molecular Diagnostics / PCR |
| Leukämie (NF1) | Leukämie (NF1) | Molecular Diagnostics / PCR |
| Liddle-Syndrom (NEDD4, NR3C2, OXSR1, SCNN1B, SCNN1G, STK39) | Liddle-Syndrom (NEDD4, NR3C2, OXSR1, SCNN1B, SCNN1G, STK39) | Molecular Diagnostics / PCR |
| Liddle-Syndrom (NEDD4L, NR3C2, OXSR1, SCNN1B, SCNN1G, STK39) | Liddle-Syndrom (NEDD4L, NR3C2, OXSR1, SCNN1B, SCNN1G, STK39) | Molecular Diagnostics / PCR |
| Lipase (LIPA) | Lipase (LIPA) | Molecular Diagnostics / PCR |
| Lipoprotein-Glomerulopathie | Lipoprotein-Glomerulopathie | Molecular Diagnostics / PCR |
| Lippen-Kiefer-Gaumenspalte 11 | Lippen-Kiefer-Gaumenspalte 11 | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (KCNH2, KCNJ5, KCNQ1) | Long-QT-Syndrom (KCNH2, KCNJ5, KCNQ1) | Molecular Diagnostics / PCR |
| Long-QT-Syndrom (KCNJ5) | Long-QT-Syndrom (KCNJ5) | Molecular Diagnostics / PCR |
| Lowe-Syndrom (OCRL) | Lowe-Syndrom (OCRL) | Molecular Diagnostics / PCR |
| Lupus erythematodes Nephritis | Lupus erythematodes Nephritis | Molecular Diagnostics / PCR |
| Lysinurische Proteinintoleranz | Lysinurische Proteinintoleranz | Molecular Diagnostics / PCR |
| MELAS-Syndrom (EHHADH) | MELAS-Syndrom (EHHADH) | Molecular Diagnostics / PCR |
| MELAS-Syndrom (EHHADH, ND1, ND5, ND6, TRNC, TRNH, TRNK, TRNQ, TRNS1, TRNS2) | MELAS-Syndrom (EHHADH, ND1, ND5, ND6, TRNC, TRNH, TRNK, TRNQ, TRNS1, TRNS2) | Molecular Diagnostics / PCR |
| MODY Diabetes (ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1) | MODY Diabetes (ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1) | Molecular Diagnostics / PCR |
| MODY Diabetes (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1) | MODY Diabetes (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1) | Molecular Diagnostics / PCR |
| MODY-Diabetes (ABCC8, APPL1, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1) | MODY-Diabetes (ABCC8, APPL1, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1) | Molecular Diagnostics / PCR |
| MYH9 assoziierte Erkrankungen | MYH9 assoziierte Erkrankungen | Molecular Diagnostics / PCR |
| Makrothrombozytopenie (ABCG5, ABCG8) | Makrothrombozytopenie (ABCG5, ABCG8) | Molecular Diagnostics / PCR |
| Makuladegeneration (APOE, ARMS2, C2, C3, CFH, CFHR1, CFHR3, FBN2) | Makuladegeneration (APOE, ARMS2, C2, C3, CFH, CFHR1, CFHR3, FBN2) | Molecular Diagnostics / PCR |
| Makuladegeneration (APOE, C2, CFH, CFHR1, CFHR3) | Makuladegeneration (APOE, C2, CFH, CFHR1, CFHR3) | Molecular Diagnostics / PCR |
| Malouf-Syndrom (LMNA) | Malouf-Syndrom (LMNA) | Molecular Diagnostics / PCR |
| Mangel (CFP) | Mangel (CFP) | Molecular Diagnostics / PCR |
| Mangel (FBP1) | Mangel (FBP1) | Molecular Diagnostics / PCR |
| Mangel (HESX1, LHX3, LHX4, POU1F1, PROP1) | Mangel (HESX1, LHX3, LHX4, POU1F1, PROP1) | Molecular Diagnostics / PCR |
| Mangel (MAT1A) | Mangel (MAT1A) | Molecular Diagnostics / PCR |
| Mangel (PROC) | Protein C-Mangel (PROC) | Molecular Diagnostics / PCR |
| Mangel (PROS1) | Protein S-Mangel (PROS1) | Molecular Diagnostics / PCR |
| Mangel (SERPINE1) | Mangel (SERPINE1) | Molecular Diagnostics / PCR |
| Mangel (SLC16A1) | Mangel (SLC16A1) | Molecular Diagnostics / PCR |
| Mangel an lysosomaler saurer | Mangel an lysosomaler saurer | Molecular Diagnostics / PCR |
| Mannose-Bindungsprotein-Mangel | Mannose-Bindungsprotein-Mangel | Molecular Diagnostics / PCR |
| Marles-Syndrom (FREM1) | Marles-Syndrom (FREM1) | Molecular Diagnostics / PCR |
| Masern-Infektanfälligkeit (CD46) | Masern-Infektanfälligkeit (CD46) | Molecular Diagnostics / PCR |
| McCune-Albright-Syndrom (GNAS) | McCune-Albright-Syndrom (GNAS) | Molecular Diagnostics / PCR |
| Meckel-Syndrom (CC2D2A, RPGRIP1L, TMEM67) | Meckel-Syndrom (CC2D2A, RPGRIP1L, TMEM67) | Molecular Diagnostics / PCR |
| Mediterrane | Mediterrane | Molecular Diagnostics / PCR |
| Medulläre Nierenzysten (MUC1, UMOD) | Medulläre Nierenzysten (MUC1, UMOD) | Molecular Diagnostics / PCR |
| Medulläre Nierenzysten (UMOD) | Medulläre Nierenzysten (UMOD) | Molecular Diagnostics / PCR |
| Meerblaue Histiozyten-Erkrankung | Meerblaue Histiozyten-Erkrankung | Molecular Diagnostics / PCR |
| Membranoproliferative | Membranoproliferative | Molecular Diagnostics / PCR |
| Meningokokken-Infektanfälligkeit | Meningokokken-Infektanfälligkeit | Molecular Diagnostics / PCR |
| Mesangioproliferative | Mesangioproliferative | Molecular Diagnostics / PCR |
| Methylmalonazidurie (MUT, MMACHC, MMADHC) | Methylmalonazidurie (MUT, MMACHC, MMADHC) | Molecular Diagnostics / PCR |
| Mevalonsäure-Azidurie (MVK) | Mevalonsäure-Azidurie (MVK) | Molecular Diagnostics / PCR |
| Mikrozephalie (MECP2) | Mikrozephalie (MECP2) | Molecular Diagnostics / PCR |
| Mitchell-Riley-Syndrom (RFX6) | Mitchell-Riley-Syndrom (RFX6) | Molecular Diagnostics / PCR |
| Mitochondrialer Diabetes mellitus | Mitochondrialer Diabetes mellitus | Molecular Diagnostics / PCR |
| Monocarboxylate-Transporter 1 | Monocarboxylate-Transporter 1 | Molecular Diagnostics / PCR |
| Morbus Wilson (ATP7B) | Morbus Wilson (ATP7B) | Molecular Diagnostics / PCR |
| Mowat-Wilson-Syndrom (ZEB2) | Mowat-Wilson-Syndrom (ZEB2) | Molecular Diagnostics / PCR |
| Muckle-Wells-Syndrom (NLRP3) | Muckle-Wells-Syndrom (NLRP3) | Molecular Diagnostics / PCR |
| Muenke-Syndrom (FGFR3) | Muenke-Syndrom (FGFR3) | Molecular Diagnostics / PCR |
| Murk-Jansen metaphyseale | Murk-Jansen metaphyseale | Molecular Diagnostics / PCR |
| Myelodysplastisches Syndrom | Myelodysplastisches Syndrom | Molecular Diagnostics / PCR |
| Myoclonus-Nephropathie-Syndrom | Myoclonus-Nephropathie-Syndrom | Molecular Diagnostics / PCR |
| Nagel-Patella-Syndrom (LMX1B) | Nagel-Patella-Syndrom (LMX1B) | Molecular Diagnostics / PCR |
| Narkolepsie (DNMT1) | Narkolepsie (DNMT1) | Molecular Diagnostics / PCR |
| Neigung zu Fettleibigkeit (ADRB2, ADRB3, CARTPT, ENPP1, GHRL, PPARGC1B, SDC3, UCP1) | Neigung zu Fettleibigkeit (ADRB2, ADRB3, CARTPT, ENPP1, GHRL, PPARGC1B, SDC3, UCP1) | Molecular Diagnostics / PCR |
| Neigung zu Fettleibigkeit (ENPP1) | Neigung zu Fettleibigkeit (ENPP1) | Molecular Diagnostics / PCR |
| Neigung zu autoimmunbedingten | Neigung zu autoimmunbedingten | Molecular Diagnostics / PCR |
| Neigung zu nächtlichem Asthma | Neigung zu nächtlichem Asthma | Molecular Diagnostics / PCR |
| Neigung zu zystischen | Neigung zu zystischen | Molecular Diagnostics / PCR |
| Neigung zur thyreotoxischen | Neigung zur thyreotoxischen | Molecular Diagnostics / PCR |
| Nemaline-Myopathie 5 (TNNT1) | Nemaline-Myopathie 5 (TNNT1) | Molecular Diagnostics / PCR |
| Neonatale Enzephalopathie mit | Neonatale Enzephalopathie mit | Molecular Diagnostics / PCR |
| Neonataler Diabetes mellitus | Neonataler Diabetes mellitus | Molecular Diagnostics / PCR |
| Neonataler Diabetes mellitus (GCK, GLIS3, HYMAI, INS, PLAGL1, ZFP57) | Neonataler Diabetes mellitus (GCK, GLIS3, HYMAI, INS, PLAGL1, ZFP57) | Molecular Diagnostics / PCR |
| Nephrolithiasis-Diarrhoe-Syndrom | Nephrolithiasis-Diarrhoe-Syndrom | Molecular Diagnostics / PCR |
| Nephronophthise (CEP290, DCDC2, GLIS2, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19) | Nephronophthise (CEP290, DCDC2, GLIS2, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19) | Molecular Diagnostics / PCR |
| Nephronophthise (CEP290, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, SDCCAG8) | Nephronophthise (CEP290, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, SDCCAG8) | Molecular Diagnostics / PCR |
| Nephronophthise 1 (NPHP1) | Nephronophthise 1 (NPHP1) | Molecular Diagnostics / PCR |
| Nephropathie mit prätibialer | Nephropathie mit prätibialer | Molecular Diagnostics / PCR |
| Nephrotisches Syndrom (ARHGDIA, COQ8B, DGKE, EMP2, FAT1, GPC5, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, WT1) | Nephrotisches Syndrom (ARHGDIA, COQ8B, DGKE, EMP2, FAT1, GPC5, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, WT1) | Molecular Diagnostics / PCR |
| Nephrotisches Syndrom (LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, WT1) | Nephrotisches Syndrom (LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, WT1) | Molecular Diagnostics / PCR |
| Neurofibromatose (NF1) | Neurofibromatose (NF1) | Molecular Diagnostics / PCR |
| Neuropathie Typ 2A (WNK1) | Neuropathie Typ 2A (WNK1) | Molecular Diagnostics / PCR |
| Nicht-autoimmunbedingte | Nicht-autoimmunbedingte | Molecular Diagnostics / PCR |
| Nicht-insulinabhängiger Diabetes | Nicht-insulinabhängiger Diabetes | Molecular Diagnostics / PCR |
| Nicht-papilläres Nierenzellkarzinom | Nicht-papilläres Nierenzellkarzinom | Molecular Diagnostics / PCR |
| Nieren- und Lebererkrankung | Nieren- und Lebererkrankung | Molecular Diagnostics / PCR |
| Nieren-erkrankung (PKD1, PKD2) | Nierenerkrankung (PKD1, PKD2) | Molecular Diagnostics / PCR |
| Nierenamyloidose (APOA1, B2M, CST3, FGA, LYZ) | Nierenamyloidose (APOA1, B2M, CST3, FGA, LYZ) | Molecular Diagnostics / PCR |
| Nierenerkrankung (ADTKD) (HNF1B, MUC1, REN, UMOD) | Nierenerkrankung (ADTKD) (HNF1B, MUC1, REN, UMOD) | Molecular Diagnostics / PCR |
| Nierenerkrankung (ADTKD) (HNF1B, REN, SEC61A1, UMOD) | Nierenerkrankung (ADTKD) (HNF1B, REN, SEC61A1, UMOD) | Molecular Diagnostics / PCR |
| Nierenerkrankung (GANAB, PKD1, PKD2) | Nierenerkrankung (GANAB, PKD1, PKD2) | Molecular Diagnostics / PCR |
| Nierenerkrankung mit | Nierenerkrankung mit | Molecular Diagnostics / PCR |
| Nierenfehlbildung (BICC1) | Nierenfehlbildung (BICC1) | Molecular Diagnostics / PCR |
| Nierenzellkarzinom (COL4A6, FH) | Nierenzellkarzinom (COL4A6, FH) | Molecular Diagnostics / PCR |
| Nierenzysten und Diabetes (RCAD) | Nierenzysten und Diabetes (RCAD) | Molecular Diagnostics / PCR |
| Nonaka-Myopathie (GNE) | Nonaka-Myopathie (GNE) | Molecular Diagnostics / PCR |
| Noonan-Syndrom 6 (TRHR) | Noonan-Syndrom 6 (TRHR) | Molecular Diagnostics / PCR |
| Norum-Krankheit (LCAT) | Norum-Krankheit (LCAT) | Molecular Diagnostics / PCR |
| Nüchternblutzucker beeinflussende | Nüchternblutzucker beeinflussende | Molecular Diagnostics / PCR |
| Opitz-Syndrom: | Smith-Lemli-Opitz-Syndrom | Molecular Diagnostics / PCR |
| Ornithin-Aminotransferase-Mangel | Ornithin-Aminotransferase-Mangel | Molecular Diagnostics / PCR |
| Osteoglophone Dysplasie (FGFR1) | Osteoglophone Dysplasie (FGFR1) | Molecular Diagnostics / PCR |
| Osteopathia striata mit kranialer | Osteopathia striata mit kranialer | Molecular Diagnostics / PCR |
| Osteopetrose (CA2, LRP5) | Osteopetrose (CA2, LRP5) | Molecular Diagnostics / PCR |
| Osteoporose (CASR, LRP5, RXRA, VDR) | Osteoporose (CASR, LRP5, RXRA, VDR) | Molecular Diagnostics / PCR |
| Osteoporose (CASR, LRP5, VDR) | Osteoporose (CASR, LRP5, VDR) | Molecular Diagnostics / PCR |
| Ovalozytose (SLC4A1) | Ovalozytose (SLC4A1) | Molecular Diagnostics / PCR |
| PAI-Transkriptionsmodulator | PAI-Transkriptionsmodulator | Molecular Diagnostics / PCR |
| Pankreasagenesie 1 (PDX1) | Pankreasagenesie 1 (PDX1) | Molecular Diagnostics / PCR |
| Pankreopriver Diabetes mellitus | Pankreopriver Diabetes mellitus | Molecular Diagnostics / PCR |
| Papillorenales Syndrom (PAX2) | Papillorenales Syndrom (PAX2) | Molecular Diagnostics / PCR |
| Paralyse 1 (CACNA1S) | Paralyse 1 (CACNA1S) | Molecular Diagnostics / PCR |
| Paraplegie 44 (GJC2) | Paraplegie 44 (GJC2) | Molecular Diagnostics / PCR |
| Partielle Lipodystrophie (CIDEC, LMNA, PLIN1, PPARG) | Partielle Lipodystrophie (CIDEC, LMNA, PLIN1, PPARG) | Molecular Diagnostics / PCR |
| Pendred-Syndrom (SLC26A4) | Pendred-Syndrom (SLC26A4) | Molecular Diagnostics / PCR |
| Phosphattransporter (SLC9A3R1, SLC20A2, SLC34A1, SLC34A3) | Phosphattransporter (SLC9A3R1, SLC20A2, SLC34A1, SLC34A3) | Molecular Diagnostics / PCR |
| Phäochromozytom (GDNF, KIF1B, MAX, RET, SDHB, SDHD, TMEM127, VHL) | Phäochromozytom (GDNF, KIF1B, MAX, RET, SDHB, SDHD, TMEM127, VHL) | Molecular Diagnostics / PCR |
| Plasminogen Aktivator Inhibitor | Plasminogen-Aktivator-Inhibitor | Molecular Diagnostics / PCR |
| Polyzystische Lebererkrankung | Polyzystische Lebererkrankung | Molecular Diagnostics / PCR |
| Polyzystische Nierenerkrankung | Polyzystische Nierenerkrankung | Molecular Diagnostics / PCR |
| Porenzephalie (COL4A1, COL4A2) | Porenzephalie (COL4A1, COL4A2) | Molecular Diagnostics / PCR |
| Primäre ziliäre Dyskinesie 3 mit | Primäre ziliäre Dyskinesie 3 mit | Molecular Diagnostics / PCR |
| Progressive knöcherne Heteroplasie | Progressive knöcherne Heteroplasie | Molecular Diagnostics / PCR |
| Protein Z-Mangel (SERPINA10, PROZ) | Protein Z-Mangel (SERPINA10, PROZ) | Molecular Diagnostics / PCR |
| Prädisposition zur Urolithiasis | Prädisposition zur Urolithiasis | Molecular Diagnostics / PCR |
| Pseudohypoaldosteronismus (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4) | Pseudohypoaldosteronismus (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4) | Molecular Diagnostics / PCR |
| Pulmonale alveoläre Mikrolithiasis | Pulmonale alveoläre Mikrolithiasis | Molecular Diagnostics / PCR |
| Rabson-Mendenhall-Syndrom | Rabson-Mendenhall-Syndrom | Molecular Diagnostics / PCR |
| Rachitis (CYP2R1, CYP27B1) | Rachitis (CYP2R1, CYP27B1) | Molecular Diagnostics / PCR |
| Raine-Syndrom (FAM20C) | Raine-Syndrom (FAM20C) | Molecular Diagnostics / PCR |
| Rekurrente Blasenmole (KHDC3L, NLRP7) | Rekurrente Blasenmole (KHDC3L, NLRP7) | Molecular Diagnostics / PCR |
| Renal-hepatisch-pankreatische | Renal-hepatisch-pankreatische | Molecular Diagnostics / PCR |
| Renale Hypodysplasie/Aplasie | Renale Hypodysplasie/Aplasie | Molecular Diagnostics / PCR |
| Renale Hypourikämie (SLC2A9, SLC22A12) | Renale Hypourikämie (SLC2A9, SLC22A12) | Molecular Diagnostics / PCR |
| Renale tubuläre Azidose | Renale tubuläre Azidose | Molecular Diagnostics / PCR |
| Renaler Diabetes insipidus (AQP2, AVPR2) | Renaler Diabetes insipidus (AQP2, AVPR2) | Molecular Diagnostics / PCR |
| Renaler Diabetes insipidus (AVPR2) | Renaler Diabetes insipidus (AVPR2) | Molecular Diagnostics / PCR |
| Resistenz gegenüber Trypanosoma | Resistenz gegenüber Trypanosoma | Molecular Diagnostics / PCR |
| Rett-Syndrom (MECP2) | Rett-Syndrom (MECP2) | Molecular Diagnostics / PCR |
| SERKAL-Syndrom (WNT4) | SERKAL-Syndrom (WNT4) | Molecular Diagnostics / PCR |
| Salla-Erkrankung (SLC17A5) | Salla-Erkrankung (SLC17A5) | Molecular Diagnostics / PCR |
| Salzsensitiver essentieller | Salzsensitiver essentieller | Molecular Diagnostics / PCR |
| Schilddrüsenerkrankungen 3 (TG, ZFAT) | Schilddrüsenerkrankungen 3 (TG, ZFAT) | Molecular Diagnostics / PCR |
| Schilddrüsenhormon-Resistenz | Schilddrüsenhormonresistenz | Molecular Diagnostics / PCR |
| Schilddrüsenkarzinome (FOXE1, HABP2, HRAS, MINPP1, NKX2-1, NRAS, NTRK1, RET, TSHR) | Schilddrüsenkarzinome (FOXE1, HABP2, HRAS, MINPP1, NKX2-1, NRAS, NTRK1, RET, TSHR) | Molecular Diagnostics / PCR |
| Schilddrüsenkarzinome (HABP2, RET) | Schilddrüsenkarzinome (HABP2, RET) | Molecular Diagnostics / PCR |
| Schimke-Dysplasie (SMARCAL1) | Schimke-Dysplasie (SMARCAL1) | Molecular Diagnostics / PCR |
| Schlechtes Ansprechen auf | Schlechtes Ansprechen auf | Molecular Diagnostics / PCR |
| Schmerzunempfindlichkeit mit | Schmerzunempfindlichkeit mit | Molecular Diagnostics / PCR |
| Schwangerschaftsexazerbierter | Schwangerschaftsexazerbierter | Molecular Diagnostics / PCR |
| Schwangerschaftshyperthyreose | Schwangerschaftshyperthyreose | Molecular Diagnostics / PCR |
| Schwere Fettsucht (PPARG) | Schwere Fettsucht (PPARG) | Molecular Diagnostics / PCR |
| Schwere Fettsucht (PPARG, SIM1) | Schwere Fettsucht (PPARG, SIM1) | Molecular Diagnostics / PCR |
| Schwere Fettsucht mit Typ 2 | Schwere Fettsucht mit Typ 2 | Molecular Diagnostics / PCR |
| Schwerhörigkeit (ATP2B2, CDH23, PCDH15, SLC26A4) | Schwerhörigkeit (ATP2B2, CDH23, PCDH15, SLC26A4) | Molecular Diagnostics / PCR |
| Schwerhörigkeit (CD151) | Schwerhörigkeit (CD151) | Molecular Diagnostics / PCR |
| Schwerhörigkeit, nicht-syndromale | Schwerhörigkeit, nicht-syndromale | Molecular Diagnostics / PCR |
| Senior-Loken-Syndrom (CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8) | Senior-Loken-Syndrom (CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8) | Molecular Diagnostics / PCR |
| Senior-Loken-Syndrom (CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19) | Senior-Loken-Syndrom (CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19) | Molecular Diagnostics / PCR |
| Short-QT-Syndrom (KCNH2, KCNJ2, KCNQ1) | Short-QT-Syndrom (KCNH2, KCNJ2, KCNQ1) | Molecular Diagnostics / PCR |
| Sialinsäurespeicherkrankheit | Sialinsäurespeicherkrankheit | Molecular Diagnostics / PCR |
| Sialurie (GNE) | Sialurie (GNE) | Molecular Diagnostics / PCR |
| Sitosterolämia (ABCG5, ABCG8) | Sitosterolämia (ABCG5, ABCG8) | Molecular Diagnostics / PCR |
| Sklerose (AMER1) | Sklerose (AMER1) | Molecular Diagnostics / PCR |
| Somatisches Nephroblastom (GPC3, WT1) | Somatisches Nephroblastom (GPC3, WT1) | Molecular Diagnostics / PCR |
| Somatisches Nephroblastom (WT1) | Somatisches Nephroblastom (WT1) | Molecular Diagnostics / PCR |
| Spastische Paraplegie 17 mit | Spastische Paraplegie 17 mit | Molecular Diagnostics / PCR |
| Sprachentwicklung und milden | Sprachentwicklung und milden | Molecular Diagnostics / PCR |
| Spätmanifeste Adipositas (AGRP) | Spätmanifeste Adipositas (AGRP) | Molecular Diagnostics / PCR |
| Struma (NKX2-5, PAX8, THRA, TSHB, TSHR) | Struma (NKX2-5, PAX8, THRA, TSHB, TSHR) | Molecular Diagnostics / PCR |
| Störungen der renalen | Störungen der renalen | Molecular Diagnostics / PCR |
| Syndrom (ALG9) | Syndrom (ALG9) | Molecular Diagnostics / PCR |
| Syndrom (C1R, C1S) | Syndrom (C1R, C1S) | Molecular Diagnostics / PCR |
| Syndrom (PDE3A) | Syndrom (PDE3A) | Molecular Diagnostics / PCR |
| Syndrom 1 (WNT5A) | Syndrom 1 (WNT5A) | Molecular Diagnostics / PCR |
| Syndrom der dünnen | Syndrom der dünnen | Molecular Diagnostics / PCR |
| Syndrom der multiplen Synostosen | Syndrom der multiplen Synostosen | Molecular Diagnostics / PCR |
| Syndrom der zentromeren | Syndrom der zentromeren | Molecular Diagnostics / PCR |
| Syndromische Microphthalmie | Syndromische Microphthalmie | Molecular Diagnostics / PCR |
| Synthetase-Überaktivität (PRPS1) | Synthetase-Überaktivität (PRPS1) | Molecular Diagnostics / PCR |
| Tangier-Erkrankung (ABCA1) | Tangier-Erkrankung (ABCA1) | Molecular Diagnostics / PCR |
| Tatton-Brown-Rahman-Syndrom | Tatton-Brown-Rahman-Syndrom | Molecular Diagnostics / PCR |
| Thanatophore Dysplasie (FGFR3) | Thanatophore Dysplasie (FGFR3) | Molecular Diagnostics / PCR |
| Thrombotisch | Thrombotisch | Molecular Diagnostics / PCR |
| Thrombozytopenische Purpura | Thrombozytopenische Purpura | Molecular Diagnostics / PCR |
| Thrombozytäres Blutungsübel Typ | Thrombozytäres Blutungsübel Typ | Molecular Diagnostics / PCR |
| Thyroiddyshormonogenesis | Thyroiddyshormonogenesis | Molecular Diagnostics / PCR |
| Townes-Brocks-Syndrom (SALL1) | Townes-Brocks-Syndrom (SALL1) | Molecular Diagnostics / PCR |
| Transienter neonataler Diabetes | Transienter neonataler Diabetes | Molecular Diagnostics / PCR |
| Triglyceridspeicherkrankheit | Triglyceridspeicherkrankheit | Molecular Diagnostics / PCR |
| Trigonocephalie 2 (FREM1) | Trigonocephalie 2 (FREM1) | Molecular Diagnostics / PCR |
| Tränen- und Speicheldrüsenaplasie | Tränen- und Speicheldrüsenaplasie | Molecular Diagnostics / PCR |
| Tubulointerstitielle | tubulointerstitielle | Molecular Diagnostics / PCR |
| Tumorcalcinose (FGF23, GALNT3, KL) | Tumorcalcinose (FGF23, GALNT3, KL) | Molecular Diagnostics / PCR |
| Typ 1E (DNMT1) | Typ 1E (DNMT1) | Molecular Diagnostics / PCR |
| Typ 3 (PPARG) | Typ 3 (PPARG) | Molecular Diagnostics / PCR |
| Urofaziales Syndrom (HPSE2) | Urofaziales Syndrom (HPSE2) | Molecular Diagnostics / PCR |
| Urogenitaldefekten (NFIA) | Urogenitaldefekten (NFIA) | Molecular Diagnostics / PCR |
| Usher-Syndrom (CDH23, PCDH15) | Usher-Syndrom (CDH23, PCDH15) | Molecular Diagnostics / PCR |
| Venöse thromboembolische | Venöse thromboembolische | Molecular Diagnostics / PCR |
| Veranlagung für entzündliche | Veranlagung für entzündliche | Molecular Diagnostics / PCR |
| Vererbte Magersucht (AGRP) | Vererbte Magersucht (AGRP) | Molecular Diagnostics / PCR |
| Verminderte Cholesterinsenkung | Verminderte Cholesterinsenkung | Molecular Diagnostics / PCR |
| Vesicoureteraler Reflux (ROBO2, SOX17, TNXB) | Vesicoureteraler Reflux (ROBO2, SOX17, TNXB) | Molecular Diagnostics / PCR |
| Vitamin D-abhängige Rachitis | Vitamin D-abhängige Rachitis | Molecular Diagnostics / PCR |
| X-Mangel (TNXB) | X-Mangel (TNXB) | Molecular Diagnostics / PCR |
| abhängigen Koagulationsfaktoren | abhängigen Koagulationsfaktoren | Molecular Diagnostics / PCR |
| adrenale Hyperplasie (ARMC5, GNAS) | adrenale Hyperplasie (ARMC5, GNAS) | Molecular Diagnostics / PCR |
| aufgrund von POMC-Mangel | aufgrund von POMC-Mangel | Molecular Diagnostics / PCR |
| autoinflammatorisches Syndrom | autoinflammatorisches Syndrom | Molecular Diagnostics / PCR |
| bei Kleinkindern (ABCC6, ENPP1) | bei Kleinkindern (ABCC6, ENPP1) | Molecular Diagnostics / PCR |
| bei Kleinkindern (ENPP1) | bei Kleinkindern (ENPP1) | Molecular Diagnostics / PCR |
| brucei (APOL1) | brucei (APOL1) | Molecular Diagnostics / PCR |
| chromosomal (BTK) | chromosomal (BTK) | Molecular Diagnostics / PCR |
| durch Statine (HMGCR, KIF6) | durch Statine (HMGCR, KIF6) | Molecular Diagnostics / PCR |
| erhöhtem Chlorid im Schweiß | erhöhtem Chlorid im Schweiß | Molecular Diagnostics / PCR |
| hydroxylasemangelbedingte | hydroxylasemangelbedingte | Molecular Diagnostics / PCR |
| hyperinsulinämischer Hypoglycämie | hyperinsulinämischer Hypoglycämie | Molecular Diagnostics / PCR |
| komplexem | komplexem | Molecular Diagnostics / PCR |
| megaloblastäre Anämie (MTR, MTRR) | megaloblastäre Anämie (MTR, MTRR) | Molecular Diagnostics / PCR |
| mellitus (KCNJ11, ZFP57) | mellitus (KCNJ11, ZFP57) | Molecular Diagnostics / PCR |
| mellitus 1 (CAPN10) | mellitus 1 (CAPN10) | Molecular Diagnostics / PCR |
| myeloische Leukämie (GATA2) | myeloische Leukämie (GATA2) | Molecular Diagnostics / PCR |
| oder ohne Situs inversus (DNAH5) | oder ohne Situs inversus (DNAH5) | Molecular Diagnostics / PCR |
| periodischen Paralyse 1 (CACNA1S) | periodischen Paralyse 1 (CACNA1S) | Molecular Diagnostics / PCR |
| phosphatämische Rachitis (PHEX) | phosphatämische Rachitis (PHEX) | Molecular Diagnostics / PCR |
| plasminämie (CP) | plasminämie (CP) | Molecular Diagnostics / PCR |
| progressiva (ACVR1) | progressiva (ACVR1) | Molecular Diagnostics / PCR |
| sensorineurale, X-chromosomale, Typ DFN (PRPS1) | sensorineurale, X-chromosomale, Typ DFN (PRPS1) | Molecular Diagnostics / PCR |
| und Hyperandrogenismus (WNT4) | und Hyperandrogenismus (WNT4) | Molecular Diagnostics / PCR |
| und des Harntraktes 1 (DSTYK) | und des Harntraktes 1 (DSTYK) | Molecular Diagnostics / PCR |
| Überempfindlichkeit (GHR) | Überempfindlichkeit (GHR) | Molecular Diagnostics / PCR |
| ähnliche Erkrankung mit | ähnliche Erkrankung mit | Molecular Diagnostics / PCR |
| (APOE) | (APOE) | Other |
| (EPX) | (EPX) | Other |
| (GGCX) | (GGCX) | Other |
| (GSN) | (GSN) | Other |
| (Gliedergürteldystrophie, kongenitale | (Gliedergürteldystrophie, kongenitale | Other |
| (LMNA) | (LMNA) | Other |
| (POMC) | (POMC) | Other |
| (TSHR) | (TSHR) | Other |
| 1) | 1) | Other |
| CFHR2, CFHR3, CFHR4, CFHR5, CLU, DGKE, PIGA, THBD) | CFHR2, CFHR3, CFHR4, CFHR5, CLU, DGKE, PIGA, THBD) | Other |
| CFHR2, CFHR3, CFHR4, CFHR5, CLU, PIGA, THBD) | CFHR2, CFHR3, CFHR4, CFHR5, CLU, PIGA, THBD) | Other |
| DQA1) | DQA1) | Other |
| Hereditäre benigne Chorea (NKX2- | Hereditäre benigne Chorea (NKX2- | Other |