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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
Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome)
mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
,
Autosomal dominant progressive external ophthalmoplegia
,
Autosomal recessive progressive external ophthalmoplegia
,
Isolated cytochrome C oxidase deficiency
,
Maternally-inherited diabetes and deafness
,
Kearns-Sayre syndrome
,
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
,
Mitochondrial DNA depletion syndrome, myopathic form
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
,
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
,
Proximal myopathy with focal depletion of mitochondria
,
Pearson syndrome
Centrum Medische Genetica - UZ Brussel VUB
Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid
MT-TE
Maternally-inherited diabetes and deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
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
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 imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique Médicale UCL
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 imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Medische Genetica - UZ Gent
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 imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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 imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Medische Genetica - UZ Antwerpen
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
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Prader-Willi syndrome due to imprinting mutation
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Centre de Génétique Humaine - Erasme ULB
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 imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique Humaine - CHU Sart-Tilman
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