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Huntington disease - HTT gene CAG repeat expansion
HTT
Huntington disease
Centrum Medische Genetica - UZ Brussel VUB
Cystic Fibrosis / related disorders (CFTR gene 88 hot spot mutations / newborn screening 12 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
Centrum Medische Genetica - UZ Brussel VUB
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
HEXA
Tay-Sachs disease, B variant, juvenile form
,
Tay-Sachs disease, B variant, infantile form
,
Tay-Sachs disease, B1 variant
,
Tay-Sachs disease, B variant, adult form
Centrum Medische Genetica - UZ Brussel VUB
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