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- 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2)
- 5-FU toxicity (Dihydropyrimidine dehydrogenase deficiency)
- Aarskog syndrome (Faciogenital dysplasia)
- Aceruloplasminaemia
- Achondroplasia
- AFP Alpha-1-fetoprotein (pregnancy)
- Agammaglobulinaemia, X-linked
- Aicardi-Goutieres syndrome
- AIRE
- Alagille syndrome
- Albright's osteodystrophy
- Alpers' syndrome
- Alpha1 antitrypsin genotyping
- Alzheimer disease, familial
- Aminoglycoside ototoxicity
- Amyloidosis, hereditary
- Anemia, X-linked sideroblastic
- Angelman syndrome
- Angiooedema, hereditary
- Antithrombin
- APC resistance (resistance to activated protein C) (Factor V - Leiden mutation)
- Apolipoprotein A-V deficiency (Hyperlipidaemia type I)
- Apolipoprotein A1 deficiency (Apolipoprotein A1 deficiency)
- Apolipoprotein A2 deficiency
- Apolipoprotein B deficiency
- Apolipoprotein C-II deficiency (Hyperlipidaemia type I)
- Apolipoprotein E genotyping (Type III - hyperlipoproteinaemia)
- Array-CGH
- Arterial tortuosity syndrome (GLUT10 deficiency)
- Ataxia, Friedreich's (FRDA)
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (Type I autoimmune polyendocrinopathy)
- Azoospermia factor
- Bannayan-Zonana syndrome
- Beta-thalassaemia
- Birt-Hogg-Dube syndrome
- Bladder cancer (Detection of early cancer stages and relapses using FISH)
- Brugada syndrome (BrS), SCN5A
- Byler disease
- Carney-Complex
- Carnitine palmitoyltransferase II deficiency (CPT II deficiency)
- CDG syndrome
- CDG syndrome, CDG 1a
- CDG syndrome, CDG 1b
- CDG syndrome, CDG-1c
- CDG syndrome, CDG-2c
- Cholestasis, benign recurrent intrahepatic (BRIC)
- Cholestasis, intrahepatic, of pregnancy (ICP)
- Cholestasis, progressive familial intrahepatic (PFIC)
- Chromosomal abnormalities in human sperm (FISH)
- Chromosomal diagnosis of leukaemia and lymphoma