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Disease
Laboratory
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
APOE
Alzheimer disease (NON RARE IN EUROPE)
Centrum Menselijke Erfelijkheid - KUL
Amyloidosis (full sanger screening of the 4 exons for TTR)
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Menselijke Erfelijkheid - KUL
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
C9ORF72
Amyotrophic lateral sclerosis
,
Frontotemporal dementia with motor neuron disease
,
Behavioral variant of frontotemporal dementia
,
Huntington disease-like syndrome due to C9ORF72 expansions
Centrum Menselijke Erfelijkheid - KUL
Amyotrophic lateral sclerosis (gene panel)
Amyotrophic lateral sclerosis (5 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Menselijke Erfelijkheid - KUL
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
AIRE
Autoimmune polyendocrinopathy type 1
Centrum Menselijke Erfelijkheid - KUL
Autoimmune disease, multisystem, infantile-onset (ADMIO) / Hyper-IgE recurrent infection syndrome
STAT3
STAT3-related early-onset multisystem autoimmune disease
,
Autosomal dominant hyper-IgE syndrome
Centrum Menselijke Erfelijkheid - KUL
Autoimmune lymphoproliferative syndrome, type V
CTLA4
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Centrum Menselijke Erfelijkheid - KUL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centrum Menselijke Erfelijkheid - KUL
Cardiopathies, hereditary (gene panel)
Cardiopathies, hereditary (102 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Beckwith-Wiedemann syndrome (11p15 methylation)
H19
,
KCNQ1OT1
,
IGF2
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome
Centrum Menselijke Erfelijkheid - KUL
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Menselijke Erfelijkheid - KUL
Bloom syndrome
BLM
Bloom syndrome
Centrum Menselijke Erfelijkheid - KUL
Breast and Ovarian Cancer, HBOC, Familial (gene panel)
Breast/ ovarian cancer (15 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
STAT1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
,
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
,
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Centrum Menselijke Erfelijkheid - KUL
Congenital disorder of glycosylation (3 genes)
Congenital disorder of glycosylation (3 genes) - KUL
PMM2-CDG
,
ALG6-CDG
,
Congenital disorder of glycosylation
Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
PMP22
Charcot-Marie-Tooth disease type 1A
,
Dejerine-Sottas syndrome
,
Hereditary neuropathy with liability to pressure palsies
Centrum Menselijke Erfelijkheid - KUL
Chronic granulomatous disease, X-linked
CYBB
Chronic granulomatous disease
,
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Centrum Menselijke Erfelijkheid - KUL
Colorectal cancer / Polyposis (gene panel)
Colorectal cancer/polyposis (18 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
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