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Analytes
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Maternally inherited deafness
MT-TS1
Rare mitochondrial non-syndromic sensorineural deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Vas deferens, congenital bilateral aplasia of, X-linked (ADGRG2 gene)
ADGRG2
Congenital bilateral absence of vas deferens
Centrum Medische Genetica - UZ Brussel VUB
Combined pituitary hormone deficiency 2 (CPHD - PROP1 gene)
PROP1
Combined pituitary hormone deficiencies, genetic forms
Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Menselijke Erfelijkheid - KUL
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