Genetic tests

Full name Analytes Gene panels Disease Laboratory
Metabolic diseases with hepatic disorders (20 genes) ATP7B, CPT1A, CYP27A1, DGUOK, DHCR7, EHHADH, GBE1, GNAS, GUSB, LIPA, MPV17, NEU1, NPC1, NPC2, POLG, SI, SLC25A13, SMPD1, TALDO1, TRMU Metabolic diseases with hepatic disorders (20 genes) - UCL Wilson disease, CPT deficiency, hepatic, type IA, Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency, Smith-Lemli-Opitz syndrome, Primary Fanconi renotubular syndrome, Glycogen storage disease IV, McCune-Albright syndrome, Mucopolysaccharidosis type 7, Wolman disease, Cholesteryl ester storage disease, Sialidosis type 1, Juvenile sialidosis type 2, Congenital sialidosis type 2, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, adult neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset, Chronic visceral acid sphingomyelinase deficiency, Infantile neurovisceral acid sphingomyelinase deficiency, Congenital sucrase-isomaltase deficiency with starch and lactose intolerance, Citrullinemia type II, Transaldolase deficiency, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Cerebrotendinous xanthomatosis Centre de Génétique Médicale UCL
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Maternal uniparental disomy of chromosome 16 Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Centrum Menselijke Erfelijkheid - KUL
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