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Analytes
Gene panels
Disease
Laboratory
Alzheimer disease (gene panel)
APP
,
PSEN1
,
PSEN2
,
APOE
Early-onset autosomal dominant Alzheimer disease
,
Behavioral variant of frontotemporal dementia
,
Semantic dementia
,
Progressive non-fluent aphasia
Centre de Génétique Humaine - Erasme ULB
Metabolic diseases with hepatic disorders (20 genes)
ATP7B
,
CPT1A
,
CYP27A1
,
DGUOK
,
DHCR7
,
EHHADH
,
GBE1
,
GNAS
,
GUSB
,
LIPA
,
MPV17
,
NEU1
,
NPC1
,
NPC2
,
POLG
,
SI
,
SLC25A13
,
SMPD1
,
TALDO1
,
TRMU
Metabolic diseases with hepatic disorders (20 genes) - UCL
Wilson disease
,
CPT deficiency, hepatic, type IA
,
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
,
Smith-Lemli-Opitz syndrome
,
Primary Fanconi renotubular syndrome
,
Glycogen storage disease IV
,
McCune-Albright syndrome
,
Mucopolysaccharidosis type 7
,
Wolman disease
,
Cholesteryl ester storage disease
,
Sialidosis type 1
,
Juvenile sialidosis type 2
,
Congenital sialidosis type 2
,
Niemann-Pick disease type C, severe perinatal form
,
Niemann-Pick disease type C, late infantile neurologic onset
,
Niemann-Pick disease type C, severe early infantile neurologic onset
,
Niemann-Pick disease type C, adult neurologic onset
,
Niemann-Pick disease type C, juvenile neurologic onset
,
Chronic visceral acid sphingomyelinase deficiency
,
Infantile neurovisceral acid sphingomyelinase deficiency
,
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
,
Citrullinemia type II
,
Transaldolase deficiency
,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
,
Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
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
Hereditary nonpolyposis colorectal cancer (gene panel)
MLH1
,
MSH2
,
MSH6
,
PMS2
,
EPCAM
,
APC
,
BMPR1A
,
CDH1
,
GREM1
,
MSH3
,
MUTYH
,
NTHL1
,
POLD1
,
POLE
,
PTEN
,
STK11
,
SMAD4
,
TP53
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
Centre de Génétique Médicale UCL
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
Centrum Menselijke Erfelijkheid - KUL
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
Centrum Medische Genetica - UZ Gent
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)
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Centrum Medische Genetica - UZ Brussel VUB
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