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Analytes
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Disease
Laboratory
Thyroid hormone receptor resistance (THRB gene)
THRB
Pituitary resistance to thyroid hormone
,
Generalized resistance to thyroid hormone
Centrum Medische Genetica - UZ Brussel VUB
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Cowden disease / PTEN hamartoma tumor syndrome
PTEN
Cowden syndrome
,
Bannayan-Riley-Ruvalcaba syndrome
,
Proteus syndrome
Centrum Medische Genetica - UZ Gent
Cowden disease (PTEN gene)
PTEN
Cowden syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Dicer1 tumor predisposition syndrome
DICER1
Familial multinodular goiter
,
DICER1 tumor-predisposition syndrome
,
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
,
Gynandroblastoma
Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Medische Genetica - UZ Antwerpen
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - Erasme ULB
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
,
Premature Ovarian Failure
Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome/FXPOI/FXTAS - FMR1 CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Menselijke Erfelijkheid - KUL
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