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Laboratory
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
ATXN8
,
TBP
,
ATN1
Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 17
,
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centrum Medische Genetica - UZ Gent
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
,
Charcot-Marie-Tooth disease type 1E
Centrum Medische Genetica - UZ Antwerpen
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique Humaine - Erasme ULB
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
PMP22
Charcot-Marie-Tooth disease type 1A
,
Dejerine-Sottas syndrome
,
Hereditary neuropathy with liability to pressure palsies
Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique Humaine - CHU Sart-Tilman
Charcot-Marie-Tooth (CMT1A, GJB1)
GJB1
,
PMP22
X-linked Charcot-Marie-Tooth disease type 1
,
Charcot-Marie-Tooth disease type 1A
Centre de Génétique Humaine - Erasme ULB
Lissencephaly / subcortical band heterotopia
PAFAH1B1
Lissencephaly due to LIS1 mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly, X-linked / subcortical band heterotopia
DCX
Lissencephaly type 1 due to doublecortin gene mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
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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