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Analytes
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Disease
Laboratory
Hypophosphatasia
ALPL
Adult hypophosphatasia
,
Infantile hypophosphatasia
,
Odontohypophosphatasia
,
Perinatal lethal hypophosphatasia
,
Childhood-onset hypophosphatasia
,
Prenatal benign hypophosphatasia
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
Transthyretine amyloïdose
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Medische Genetica - UZ Gent
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
,
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (full sanger screening of the 4 exons for TTR)
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Menselijke Erfelijkheid - KUL
Lissencephaly / subcortical band heterotopia
PAFAH1B1
Lissencephaly due to LIS1 mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (LIS1 gene)
PAFAH1B1
Lissencephaly due to LIS1 mutation
Centrum Medische Genetica - UZ Brussel VUB
Malformations of cortical development (235 genes)
Malformations of cortical development (235 genes) - VUB
Bilateral perisylvian polymicrogyria
,
Cobblestone lissencephaly without muscular or ocular involvement
,
Lissencephaly due to LIS1 mutation
,
Lissencephaly due to TUBA1A mutation
,
Lissencephaly syndrome, Norman-Roberts type
,
Lissencephaly type 1 due to doublecortin gene mutation
,
Microlissencephaly
,
Polymicrogyria due to TUBB2B mutation
,
Subcortical band heterotopia
,
X-linked lissencephaly with abnormal genitalia
Centrum Medische Genetica - UZ Brussel VUB
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