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Analytes
Gene panels
Disease
Laboratory
Cerebral cavernous malformation (gene panel)
KRIT1
,
CCM2
,
PDCD10
Cerebral cavernous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Familial cerebral cavernous malformation
Centre de Génétique Médicale UCL
Schinzel-Giedion midface retraction syndrome
SETBP1
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
,
Schinzel-Giedion syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity
COL4A1
,
COL4A2
Familial porencephaly
,
HANAC syndrome
,
Retinal arterial tortuosity
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
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)
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