Neurology / Neuropediatrics
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Galactosemia type III (deletion/duplication analysis on GALE gene)
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Galactosemia type III (sequence analysis of GALE gene)
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Galactosialidosis (sequence analysis of CTSA gene)
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Galloway-Mowat syndrome (sequence analysis of WDR73 gene)
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Gamma-aminobutyric acid transaminase deficiency (sequence analysis of ABAT gene)
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Gamma-glutamylcysteine synthetase deficiency (sequence analysis of GCLC gene)
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Gangliosidosis (deletion/duplication analysis on GM2A gene)
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Gangliosidosis (sequence analysis of GM2A gene)
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Gaucher disease (deletion/duplication analysis on GBA gene)
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Gaucher disease (sequence analysis of GBA gene)
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Generalized epilepsy and paroxysmal dyskinesia (sequence analysis of KCNMA1 gene)
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Generalized epilepsy with febrile seizures plus type 1 (GEFS+, sequence analysis of SCN1B gene)
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Generalized epilepsy with febrile seizures-plus, type 9 (sequence analysis of STX1B)
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Genitopatellar syndrome (sequence analysis of KAT6B gene)
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Gerstmann-Straussler disease (sequence analysis of PRNP gene)
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Giant axonal neuropathy (sequence analysis of GAN gene)
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Gillespie syndrome (sequence analysis of ITPR1 gene)
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Glucose transporter type 1 defeciency (deletion/duplication analysis on SLC2A1 gene)
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GLUT1 deficiency syndrome 1 (sequence analysis of SLC2A1 gene)
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Glutaric aciduria (NGS panel of 3 genes)
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