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Product | Type of test | Genes |
---|---|---|
Walker-Warburg syndrome | Gene NGS | POMT1 |
Walker-Warburg syndrome, POMT2-related | Gene NGS | POMT2 |
Weill-Marchesani syndrome | Gene NGS | ADAMTS10 |
Wilms tumor | Gene NGS | WT1 |
Wilms tumor | Gene NGS | CTNNB1 |
Wilson disease |
Detección de deleciones/duplicaciones |
ATP7B |
Wilson, enfermedad de | Detección de deleciones/duplicaciones | ATP7B |
Wiskott-Aldrich, síndrome de | Gene NGS | WIPF1 |
Wolff-Parkinson-White syndrome | Gene NGS | PRKAG2 |
Wolfram syndrome type 2 | Gene NGS | CISD2 |
Wolman disease | Gene NGS | LIPA |
X-Fragile molecular study | Detection of expansions | |
X-Fragile molecular study | Detection of expansions | |
X-linked adrenal hypoplasia congenita | Gene NGS | NR0B1 |
X-linked congenital cataract | Gene NGS | NHS |
X-linked familial exudative vitreoretinopathy | Gene NGS | NDP |