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Analytes
Gene panels
Disease
Laboratory
RASopathy (gene panel)
RASopathy - KUL
Noonan syndrome
Centrum Menselijke Erfelijkheid - KUL
Noonan syndrome (Screening PTPN11)
PTPN11
Noonan syndrome
,
Noonan syndrome with multiple lentigines
Centrum Menselijke Erfelijkheid - KUL
Primary lymphedema / fetal hydrops (gene panel)
Lymphedema / fetal hydrops (27 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
,
Cardiofaciocutaneous syndrome
,
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
,
Noonan syndrome
,
Oculodentodigital dysplasia
,
Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
,
Lymphedema-distichiasis syndrome
,
Lymphedema-posterior choanal atresia syndrome
,
Hennekam syndrome
,
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Hirschsprung disease
Hirschsprung disease - Ugent
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2A
,
Multiple endocrine neoplasia type 2B
,
Familial medullary thyroid carcinoma
,
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Hirschsprung disease
RET
Hirschsprung disease
Centrum Menselijke Erfelijkheid - KUL
Hirschsprung disease
RET
Hirschsprung disease
Centre de Génétique Médicale UCL
Brain malformations (gene panel)
Brain malformations (34 genes) - ULB
Septopreoptic holoprosencephaly
,
Semilobar holoprosencephaly
,
Pituitary stalk interruption syndrome
,
Midline interhemispheric variant of holoprosencephaly
,
Lobar holoprosencephaly
,
Alobar holoprosencephaly
,
Encephalocraniocutaneous lipomatosis
,
Hartsfield syndrome
,
Non-syndromic metopic craniosynostosis
,
Pfeiffer syndrome type 1
,
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
,
Combined pituitary hormone deficiencies, genetic forms
,
Situs ambiguus
,
Situs inversus totalis
,
Gorlin syndrome
,
Schilbach-Rott syndrome
,
Triphalangeal thumb-polysyndactyly syndrome
,
Acquired schizencephaly
,
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
,
Radial hemimelia
,
Polydactyly of a triphalangeal thumb
,
Syndactyly type 4
,
Acrocallosal syndrome
,
Desmoplastic/nodular medulloblastoma
,
Familial multiple meningioma
,
Meningioma
,
Congenital non-communicating hydrocephalus
,
MASA syndrome
,
X-linked complicated corpus callosum dysgenesis
,
X-linked complicated spastic paraplegia type 1
,
Congenital communicating hydrocephalus
Centre de Génétique Humaine - Erasme ULB
Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
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