List of diseases covered by Leukodystrophy and Leukoencephalopathy NGS panel

Published 31/01/2018

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

Leukodystrophy and Leukoencephalopathy NGS panel

Published 17/01/2018

Leukodystrophy and Leukoencephalopathy
NGS panel

Genes
(full coding
region):		 ABCD1, ADAR, AIMP1, ARSA, ASPA, CLCN2, CSF1R, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, GALC, GFAP, GJC2, GM2A, HEPACAM, HSPD1, HTRA1, L2HGDH, LMNB1, MAN2B1, MTHFR, MLC1, NOTCH3, NPC1, NPC2, PEX10, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SOX10, SUMF1, TREX1, TUBB4A

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ABCD1, ASPA, D2HGDH, L2HGDH, LMNB1, MLC1, MLYCD, NOTCH3, PLP1, SLC6A8
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form