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Analytes
Gene panels
Disease
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Adams-Oliver syndrome (gene panel)
ARHGAP31
,
DOCK6
,
RBPJ
,
NOTCH1
,
DLL4
,
EOGT
Adams-Oliver (6 genes) - UZA
Adams-Oliver syndrome
Centrum Medische Genetica - UZ Antwerpen
Phenylketonuria
PAH
Classic phenylketonuria
Centre de Génétique Humaine - Erasme ULB
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)
ASPA
Mild Canavan disease
,
Severe Canavan disease
Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
Hereditary Alpha Tryptasemia
TPSAB1
Hereditary Alpha Tryptasemia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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