©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLeukodystrophies, adult onset, differential diagnosis

Summary

Short information

A comprehensive panel for the differential diagnosis of Leukodystrophies, adult onste, containing 13 guideline-curated core genes and altogether 51 curated genes according to the clinical suspicion

ID
LP1223
Number of genes
32 Accredited laboratory test
Examined sequence length
25,4 kb (Core-/Core-canditate-Genes)
65,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ABCD12238XLR
ARSA1530AR
CLCN22697AR
COL4A15010AD, Mult
CSF1R2919AD
EIF2B1918AR
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
GFAP1299AD
LMNB11761AD
PLP1834XLR
AARS22958AR
CBS1656AR
CTSA1497AR
CYP27A11596AR
DARS21938AR
GALC2058AR
GJC21320AR
HTRA11443AD, AR
MTHFR1971AR
NOTCH36966AD
POLR3A4173AR
POLR3B3402AR
PSAP1575AR
RNF2162772AR
TREM2660AR
TREX1945AD, AR
TUBB4A1335AD
TYMP1449AR
TYROBP309AR

Informations about the disease

Synonyms
  • Alias: Leukodystrophies, adult
  • Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
  • Allelic: Hex A pseudodeficiency (HEXA)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Microcephaly 26, primary, AD (LMNB1)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Neural tube defects, susceptibility to (MTHFR)
  • Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
  • Allelic: Retinal arteries, tortuosity of (COL4A1)
  • Allelic: Schizophrenia, susceptibility to (MTHFR1)
  • Allelic: Sialic acid storage disorder, infantile (SLC17A5)
  • Allelic: Thromboembolism, susceptibility to (MTHFR)
  • Allelic: Thrombosis, hyperhomocysteinemic (CBS)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Allelic: Vascular disease, susceptibility to (MTHFR)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Adrenoleukodystrophy; Adrenomyeloneuropathy, adult (ABCD1)
  • Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Aicardi-Goutieres syndrome 3 (RNASEH2C)
  • Aicardi-Goutieres syndrome 4 (RNASEH2A)
  • Aicardi-Goutieres syndrome 5 (SAMHD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Alexander disease (GFAP)
  • Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • CARASIL syndrome (HTRA1)
  • Canavan disease (ASPA)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Combined SAP deficiency (PSAP)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Fucosidosis (FUCA1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galactosialidosis (CTSA)
  • Gaucher disease, atypical (PSAP)
  • Glutaricaciduria, type I (GCDH)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Krabbe disease (GALC)
  • Krabbe disease, atypical (PSAP)
  • L-2-hydroxyglutaric aciduria (L2HGDH syn. L2HGDA)
  • Leukodystrophy, adult-onset, AD (LMNB1)
  • Leukodystrophy, hypomyelinating, 10 (PICR2)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Leukodystrophy, hypomyelinating, 12 (VPS11)
  • Leukodystrophy, hypomyelinating, 13 (HIKESHI)
  • Leukodystrophy, hypomyelinating, 14 (UFM1)
  • Leukodystrophy, hypomyelinating, 15 (EPRS)
  • Leukodystrophy, hypomyelinating, 16 (TMEM106B)
  • Leukodystrophy, hypomyelinating, 17 (AIMP2)
  • Leukodystrophy, hypomyelinating, 18 (DEGS1)
  • Leukodystrophy, hypomyelinating, 19, transient infantile (TMEM63A)
  • Leukodystrophy, hypomyelinating, 1; Pelizaeus-Merzbacher disease (PLP1)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 3 (AIMP1)
  • Leukodystrophy, hypomyelinating, 4 (HSPD1)
  • Leukodystrophy, hypomyelinating, 5 (FAM126A)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/or hypogonad. hypogonad. (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/or hypogonad. hypogonad. (POLR3B)
  • Leukodystrophy, hypomyelinating, 9 (RARS1)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem, spinal cord involvement, lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Mannosidosis, alpha-, types I + II (MAN2B1)
  • Megalencephalic leukoenceph., subcortical cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
  • Megalencephalic leukoencephalopathy, subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy, subcortical cysts 2A (HEPACAM)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
  • Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
  • Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
  • Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
  • Mucolipidosis IV (MCOLN1)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
  • Polyglucosan body disease, adult form (GBE1)
  • Salla disease (SLC17A5)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Tay-Sachs disease (HEXA)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E75.2

Bioinformatics and clinical interpretation

No text defined