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Analytes
Gene panels
Disease
Laboratory
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
Cadasil (exons of EGFL domains (2 - 24 ))
NOTCH3
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Centrum Medische Genetica - UZ Gent
Incontinentia pigmenti (IKBKG gene)
IKBKG
Incontinentia pigmenti
Centrum Medische Genetica - UZ Brussel VUB
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Floating Harbor
SRCAP
Floating-Harbor syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540)
FGFR3
Hypochondroplasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centrum Medische Genetica - UZ Antwerpen
Androgen insensitivity (AR gene)
AR
Partial androgen insensitivity syndrome
,
Complete androgen insensitivity syndrome
Centrum Medische Genetica - UZ Brussel VUB
Antithrombine III deficiency (thrombophilia) (SERPINC1 gene)
SERPINC1
Hereditary thrombophilia due to congenital antithrombin deficiency
Centrum Medische Genetica - UZ Brussel VUB
Cardiomyopathy, hereditary (gene panel)
Cardiomyopathy, hereditary (208 genes) - VUB
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
,
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
,
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
,
Familial isolated dilated cardiomyopathy
,
Familial isolated restrictive cardiomyopathy
,
Left ventricular noncompaction
Centrum Medische Genetica - UZ Brussel VUB
Congenital malformation gene panel
Congenital malformation gene panel - VUB
Centrum Medische Genetica - UZ Brussel VUB
Congenital myotonia (Becker-Thomsen disease) (CLCN1 gene)
CLCN1
Thomsen and Becker disease
Centrum Medische Genetica - UZ Brussel VUB
Epilepsy gene panel
Epilepsy gene panel - VUB
Centrum Medische Genetica - UZ Brussel VUB
Fructosemia (ALDOB gene)
ALDOB
Hereditary fructose intolerance
Centrum Medische Genetica - UZ Brussel VUB
Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hypoparathyroidism, familial isolated (CASR gene)
CASR
Familial hypocalciuric hypercalcemia type 1
,
Autosomal dominant hypocalcemia
Centrum Medische Genetica - UZ Brussel VUB
Hypogonadotropic hypogonadism (33 genes)
Hypogonadotropic hypogonadism (33 genes) - VUB
Normosmic congenital hypogonadotropic hypogonadism
Centrum Medische Genetica - UZ Brussel VUB
Leigh syndrome
COX15
Leigh syndrome with leukodystrophy
,
Leigh syndrome with cardiomyopathy
Centrum Medische Genetica - UZ Brussel VUB
Lissencephaly (LIS1 gene)
PAFAH1B1
Lissencephaly due to LIS1 mutation
Centrum Medische Genetica - UZ Brussel VUB
Lissencephaly (Tubulin alpha 1A gene)
TUBA1A
Lissencephaly due to TUBA1A mutation
Centrum Medische Genetica - UZ Brussel VUB
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