List of diseases covered by
Leukodystrophy and Leukoencephalopathy NGS panel
| Gene | Condition |
| ABCD1 | Adrenoleukodystrophy |
| ADAR | Aicardi-goutieres syndrome 6 |
| AIMP1 | Leukodystrophy, hypomyelinating 3 |
| ARSA | Metachromatic leukodystrophy |
| ASPA | Spongy degeneration of central nervous system |
| CLCN2 | Leukoencephalopathy with ataxia |
| CSF1R | Hereditary diffuse leukoencephalopathy with spheroids |
| CYP27A1 | Cerebrotendinous xanthomatosis |
| DARS2 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
| EARS2 | Combined oxidative phosphorylation deficiency 12 |
| EIF2B1 | Leukoencephalopathy with vanishing white matter |
| EIF2B2 | Leukoencephalopathy with vanishing white matter |
| EIF2B3 | Leukoencephalopathy with vanishing white matter |
| EIF2B4 | Leukoencephalopathy with vanishing white matter |
| EIF2B5 | Leukoencephalopathy with vanishing white matter |
| FAM126A | Leukodystrophy, hypomyelinating, 5 |
| FOLR1 | Cerebral folate deficiency |
| GALC | Galactosylceramide beta-galactosidase deficiency |
| GFAP | Alexander disease |
| GJC2 | Leukodystrophy, hypomyelinating, 2; Spastic paraplegia 44, autosomal recessive |
| HEPACAM | Megalencephalic leukoencephalopathy with subcortical cysts 2a; Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation |
| HSPD1 | Leukodystrophy, hypomyelinating, 4; Spastic paraplegia 13 |
| HTRA1 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2; Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
| L2HGDH | L-2-hydroxyglutaric aciduria |
| LMNB1 | Leukodystrophy, adult-onset, autosomal dominant |
| MAN2B1 | Mannosidosis, alpha-, types I and II |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| MTHFR | Homocystinuria due to MTHFR deficiency |
| NOTCH3 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Lehman syndrome |
| PLP1 | Pelizaeus-Merzbacher disease; Spastic paraplegia 2 |
| POLR3A | Hypomyelinating leukodystrophy 7 |
| POLR3B | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| PSAP | Sphingolipid activator protein 1 deficiency; Combined saposin deficiency; Gaucher disease, atypical, due to saposin C deficiency; Krabbe disease atypical due to Saposin A deficiency |
| RNASEH2A | Aicardi Goutieres syndrome 4 |
| RNASEH2B | Aicardi Goutieres syndrome 2 |
| RNASEH2C | Aicardi Goutieres syndrome 3 |
| RNASET2 | Leukoencephalopathy, cystic, without megalencephaly |
| SAMHD1 | Aicardi Goutieres syndrome 5 |
| SCP2 | Leukoencephalopathy with dystonia and motor neuropathy |
| SOX10 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Waardenburg syndrome type 2E Waardenburg syndrome type 4C |
| SUMF1 | Multiple sulfatase deficiency |
| TREX1 | Aicardi Goutieres syndrome 1; Vasculopathy, retinal, with cerebral leukodystrophy |
| TUBB4A | Leukodystrophy, hypomyelinating, 6; Dystonia 4, torsion, autosomal dominant |