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Laboratory
filaggrin gene
FLG
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
,
DERMATITIS, ATOPIC
Centre de Génétique Humaine - CHU Sart-Tilman
« Inherited bone marrow failures syndromes » with or without organ dysfunction
Hematologic Familiar Forms - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
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
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
Germline analysis of BRCA1/2 for iPARP treatment
BRCA1
,
BRCA2
Germline analysis of BRCA1/2 for iPARP treatment
Hereditary breast cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Movement Disorders (gene panel)
Movement Disorders - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Myeloid/lymphoid neoplasms with germline predisposition
Centre de Génétique Humaine - CHU Sart-Tilman
Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)
Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Inherited Kidney Diseases (Gene Panel)
Panel Nephro-ULG-V1
Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
Hyperparathyroidism (gene panel)
AIP
,
MEN1
,
CDKN1B
,
PRKAR1A
,
RET
Familial isolated hyperparathyroidism
Centre de Génétique Humaine - CHU Sart-Tilman
Adrenoleukodystrophy, X-linked
ABCD1
X-linked cerebral adrenoleukodystrophy
Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies (full sequencing)
HBB
Sickle cell anemia
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin M disease
,
Delta-beta-thalassemia
,
Dominant beta-thalassemia
Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary Breast and Ovarian Cancer, HBOC (13 genes)
BRCA1
,
BRCA2
,
TP53
,
PALB2
,
CHEK2
,
MLH1
,
MSH2
,
MSH6
,
BRIP1
,
BARD1
,
RAD51C
,
RAD51D
,
ATM
Breast cancer, hereditary (13 genes) - ULG
Hereditary breast cancer
,
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary cancer (Breast, ovary, colon) (26 genes)
BRCA1
,
BRCA2
,
BARD1
,
BRIP1
,
CDH1
,
MLH1
,
MSH2
,
MSH6
,
MEN1
,
PTEN
,
RAD50
,
RAD51D
,
STK11
,
TP53
,
CHEK2
,
MUTYH
,
PALB2
,
RAD51C
,
ATM
,
EPCAM
,
BLM
,
NBN
,
PMS2
,
XRCC2
,
ABRAXAS1
,
MRE11
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Cardiofaciocutaneous syndrome (5 genes)
HRAS
,
KRAS
,
BRAF
,
MAP2K2
,
MAP2K1
Cardiofaciocutaneous syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Central Precocious Puberty (5 genes)
MKRN3
,
KISS1
,
KISS1R
,
PROKR2
,
DLK1
Central Precocious Puberty (5 genes) - ULG
Idiopathic central precocious puberty
Centre de Génétique Humaine - CHU Sart-Tilman
Cerebral folate transport deficiency (2 genes)
FOLR1
,
FOLR2
Cerebral folate transport deficiency (2 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Costello Syndrome- Schimmelpenning syndrome
HRAS
Costello syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Cowden disease (PTEN gene)
PTEN
Cowden syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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