Stoffwechselerkrankungen

Adipositas, ID 615.00 (7 Gene)

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Alpha-1 Antitrypsin Defizienz, SERPINA1, S (rs17580) and Z (rs28929474) (1 Gene)

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Andrenogenitales Syndrom, 21-Hydroxylase-Defizienz (CYP21A2) (1 Gene)

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CoQ10-Defizienz, ID 054.02 (14 Gene)

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Cystische Fibrose - CFTR Gen, ID 923.00 (1 Gene)

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Cystische Fibrose: CFTR, häufigste Mutationen (1 Gene)

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Danon-Disease (LAMP2) (1 Gene)

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Diabetes, mitochondrial (MT-TL1 m.3243A>G) (1 Gene)

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Fettstoffwechselstörung, ID 623.00 (13 Gene)

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Fettstoffwechselstörung - Familiäre Hypercholesterinämie, ID 622.00 (4 Gene)

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Geistige Behinderung - behandelbar, ID 922.00 (140 Gene)

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Glutarazidurie Typ 1 (ETFDH, ETFA, ETFB) (3 Gene)

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Glycin Enzephalopathie, ID 595.00 (3 Gene)

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Glykogenosen, ID 929.00 (28 Gene)

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Guanidino-Acetat-Methyltransferase-Mangel (GAMT) (1 Gene)

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Hämochromatose - HFE Gen, ID 926.00 (1 Gene)

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Hämochromatose, umfassende Diagnostik, ID 626.00 (6 Gene)

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Hämochromatose: HFE p.Cys282Tyr, p.His63Asp, p.Ser65Cys (1 Gene)

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Hypercholesterinämie (LDLR) (1 Gene)

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Hypercholesterinämie, seltene Ursachen, ID 621.00 (3 Gene)

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Hypertriglyceridämie / gemischte Hyperlipidämien, ID 619.00 (8 Gene)

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Hypobetalipoproteinämie (APOB) (1 Gene)

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Kongenitale Glykosylierungs-Defekt (CDG)-Syndrome - Basisdiagnostik, ID 841.00 (21 Gene)

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Menkes-Syndrom (ATP7A) (1 Gene)

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Methylmalonazidurie, ID 278.00 (8 Gene)

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Molybdän-Cofaktor-Mangel, ID 279.00 (3 Gene)

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Morbus Meulengracht, UGTA1 (TA)(7) Polymorphismus (1 Gene)

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Mucolipidosen und Differentialdiagnosen, ID 757.00 (9 Gene)

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Neuronale Lipofuscinosen (NCL), ID 280.01 (13 Gene)

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Porphyrie, ID 191.00 (9 Gene)

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