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Genetic tests
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Analytes
Gene panels
Disease
Laboratory
Bile Acid Synthesis Congenital Defect (gene panel)
AKR1D1
,
AMACR
,
CYP7B1
,
HSD3B7
,
CYP27A1
Bile Acid Synthesis Congenital Defect (5 genes) - UCL
Congenital bile acid synthesis defect type 2
,
Congenital bile acid synthesis defect type 4
,
Cerebrotendinous xanthomatosis
,
Congenital bile acid synthesis defect type 3
,
Congenital bile acid synthesis defect type 1
Centre de Génétique Médicale UCL
Colon carcinoma (hereditary/familial) (gene panel)
Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
APC-related attenuated familial adenomatous polyposis
,
Familial adenomatous polyposis
,
Familial colorectal cancer Type X
,
Generalized juvenile polyposis/juvenile polyposis coli
,
Hereditary mixed polyposis syndrome
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
MUTYH-related attenuated familial adenomatous polyposis
Centrum Medische Genetica - UZ Brussel VUB
Hereditary Polyposis Panel (11 genes) - ULG
APC
,
MUTYH
,
BMPR1A
,
NTHL1
,
SMAD4
,
MSH3
,
POLE
,
POLD1
,
PTEN
,
STK11
,
GREM1
Hereditary Polyposis Panel (11 genes) - ULG
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Turcot syndrome with polyposis
,
Hereditary mixed polyposis syndrome
,
Generalized juvenile polyposis/juvenile polyposis coli
Centre de Génétique Humaine - CHU Sart-Tilman
Adenomatous polyposis, familial (gene panel)
APC
,
MUTYH
,
BMPR1A
,
EPCAM
,
GREM1
,
MLH1
,
MSH2
,
MSH3
,
MSH6
,
NTHL1
,
PMS2
,
POLD1
,
POLE
,
PTEN
,
STK11
,
CDH1
,
SMAD4
,
TP53
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
Centre de Génétique Médicale UCL
Kallmann syndrome (ANOS1 gene)
ANOS1
Kallmann syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel)
TYR
,
OCA2
,
TYRP1
,
SLC45A2
,
SLC24A5
,
LRMDA
,
GPR143
Ocular and oculocutaneous albinism - UGent
Oculocutaneous albinism type 1A
,
Oculocutaneous albinism type 1B
,
Oculocutaneous albinism type 2
,
Oculocutaneous albinism type 3
,
Oculocutaneous albinism type 4
,
Oculocutaneous albinism type 6
,
Oculocutaneous albinism type 7
Centrum Medische Genetica - UZ Gent
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