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Analytes
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Disease
Laboratory
X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene)
L1CAM
Hydrocephalus with stenosis of the aqueduct of Sylvius
Centrum Medische Genetica - UZ Brussel VUB
Tuberous sclerosis
TSC1
,
TSC2
Tuberous sclerosis complex
Centrum Medische Genetica - UZ Gent
Tuberous sclerosis (2 genes)
TSC1
,
TSC2
Tuberous sclerosis complex
Centre de Génétique Médicale UCL
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - UCL
Hereditary chronic pancreatitis
Centre de Génétique Médicale UCL
Pancreatitis, hereditary (2 genes)
PRSS1
,
SPINK1
Hereditary chronic pancreatitis
Centrum Medische Genetica - UZ Gent
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - ULB
Hereditary chronic pancreatitis
Centre de Génétique Humaine - Erasme ULB
Pancreatitis, idiopathic or hereditary (7 genes)
CFTR
,
SPINK1
,
PRSS1
,
CTRC
,
CASR
,
CLDN2
,
CPA1
Pancreatitis (7 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L)
BCL11A
,
HBG2
,
HBS1L
Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Hemoglobinopathy Toms River
Centre de Génétique Humaine - Erasme ULB
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
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