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Analytes
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Disease
Laboratory
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Amyotrophic Lateral Sclerosis (ALS) (gene panel)
Amyotrophic Lateral Sclerosis (ALS) - UGent
Amyotrophic lateral sclerosis
,
Juvenile amyotrophic lateral sclerosis
,
Amyotrophic lateral sclerosis type 4
Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72
C9ORF72
Amyotrophic lateral sclerosis type 4
,
Frontotemporal dementia with motor neuron disease
Centrum Medische Genetica - UZ Gent
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
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction
OTX2
Syndromic microphthalmia type 5
,
Combined pituitary hormone deficiencies, genetic forms
,
Butterfly-shaped pigment dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Combined pituitary hormone deficiency 1 (CPHD - POU1F1 gene)
POU1F1
Combined pituitary hormone deficiencies, genetic forms
Centrum Medische Genetica - UZ Brussel VUB
Combined pituitary hormone deficiency 2 (CPHD - PROP1 gene)
PROP1
Combined pituitary hormone deficiencies, genetic forms
Centrum Medische Genetica - UZ Brussel VUB
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
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