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Analytes
Gene panels
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Laboratory
BAP1-related tumor predisposition syndrome (TPDS)
BAP1
Familial melanoma
Centrum Menselijke Erfelijkheid - KUL
Hereditary Melanoma Panel (7 genes)
CDKN2A
,
CDK4
,
POT1
,
TERT
,
TERF2IP
,
BAP1
,
MITF
Hereditary Melanoma Panel (7 genes) - ULG
Familial melanoma
Centre de Génétique Humaine - CHU Sart-Tilman
Familial melanoma / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM (gene panel)
Familial melanoma - UGent
Familial melanoma
Centrum Medische Genetica - UZ Gent
Susceptibility to Cutaneous Malignant Melanoma
CDK4
Familial melanoma
Centre de Génétique Humaine - CHU Sart-Tilman
Melanoma (6 genes)
BAP1
,
CDK4
,
CDKN2A
,
MC1R
,
MITF
,
POT1
Melanoma (6 genes) - UCL
Familial melanoma
,
MITF-related melanoma and renal cell carcinoma predisposition syndrome
,
Uveal melanoma
,
Melanoma of soft tissue
Centre de Génétique Médicale UCL
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Menselijke Erfelijkheid - KUL
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centre de Génétique Médicale UCL
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
BSCL2
Autosomal dominant spastic paraplegia type 17
,
Severe neurodegenerative syndrome with lipodystrophy
,
Distal hereditary motor neuropathy type 5
,
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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