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Analytes
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Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)
MT-ATP6
NARP syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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)
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)
Medulloblastoma (gene panel)
SUFU
,
TP53
,
PTCH1
Medulloblastoma (3 genes) - KUL
Medulloblastoma
Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes)
PTCH1
,
PTCH2
,
SUFU
Medulloblastoma (3 genes) - UCL
Medulloblastoma
,
Gorlin syndrome
Centre de Génétique Médicale UCL
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