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Analytes
Gene panels
Disease
Laboratory
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Tubulopathy (gene panel)
Tubulopathy/Nephrolithiasis (106 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Uniparental Disomy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg Syndrome types I and III
PAX3
Waardenburg syndrome type 1
,
Waardenburg syndrome type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
X-chromosome inactivation
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hereditary Angioedema (7 genes)
PLG
,
F12
,
SERPING1
,
ANGPT1
,
KNG1
Angioedema (7 genes) - IPG
F12-related hereditary angioedema with normal C1Inh
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
,
PLG-related hereditary angioedema with normal C1Inh
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Neurodegeneration (gene panel)
Neurodegeneration (99 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypophosphatasia
ALPL
Adult hypophosphatasia
,
Infantile hypophosphatasia
,
Odontohypophosphatasia
,
Perinatal lethal hypophosphatasia
,
Childhood-onset hypophosphatasia
,
Prenatal benign hypophosphatasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hyperoxaluria
AGXT
,
GRHPR
,
HOGA1
Primary hyperoxaluria type 1
,
Primary hyperoxaluria type 2
,
Primary hyperoxaluria type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
CHARGE syndrome
CHD7
CHARGE syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Smith Lemli Opitz
DHCR7
Smith-Lemli-Opitz syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Breast and Ovarian Cancer, HBOC, Familial (12 genes)
Breast/Ovarian cancer (12 genes) - IPG
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leiomyomatosis and renal cell cancer
FH
Hereditary leiomyomatosis and renal cell cancer
Centre de Génétique Médicale UCL
Gorlin syndrome (gene panel)
PTCH1
,
PTCH2
,
SUFU
Gorlin syndrome (3 genes)
Gorlin syndrome
Centre de Génétique Médicale UCL
Intellectual disability (virtual gene panel)
Intellectual disability (gene panel)
Centre de Génétique Médicale UCL
cleft lip with/whitout cleft palate (virtual gene panel)
Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
Cleft lip/palate
Centre de Génétique Médicale UCL
Telomeropathies (virtual gene panel)
Centre de Génétique Médicale UCL
Hereditary cancer panel (gene panel)
Hereditary Cancer Solution (35 genes) - UCL
Centre de Génétique Médicale UCL
TPMT*2,*3A, *3B, *3C, *3D, *4 - drug metabolism - Pharmacogenetics
TPMT
Centre de Génétique Médicale UCL
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