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IllnessMorbus Alexander, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Alexander disease comprising 15 guideline-curated genes and altogether 20 curated genes according to the clinical signs

ID
AP7285
Number of genes
21 Accredited laboratory test
Examined sequence length
22,1 kb (Core-/Core-canditate-Genes)
38,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCD12238NM_000033.4XLR
ARSA1530NM_000487.6AR
ASPA942NM_000049.4AR
GALC2058NM_000153.4AR
GCDH1317NM_000159.4AR
GFAP1299NM_002055.5AD
HEPACAM1251NM_152722.5AD, AR
L2HGDH1392NM_024884.3AR
MLC11134NM_015166.4AR
PEX13852NM_000466.3AR
PEX121080NM_000286.3AR
PEX62943NM_000287.4AR
PEX7972NM_000288.4XLR
DARS21938NM_018122.5AR
EIF2B1918NM_001414.4AR
EIF2B21056NM_014239.4AR
EIF2B31359NM_020365.5AR
EIF2B41569NM_015636.4AR
EIF2B52166NM_003907.3AR
NOTCH36966NM_000435.3AD
PLP1834NM_000533.5XLR

Informations about the disease

Clinical Comment

illness_ClinicalComment_AP7285

 

Synonyms
  • Alias: Alexander disease (GFAP)
  • Allelic: Heimler syndrome 1 (PEX1)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Spastic paraplegia 2, XL (PLP1)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Canavan disease
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Glutaricaciduria, type I (GCDH)
  • Krabbe disease (GALC)
  • L-2-hydroxyglutaric aciduria (L2HGDH)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIFF2B3, EIF2B4, EIF2B5)
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitt. +/- mental retard. (HEPACAM)
  • Metachromatic leukodystrophy (ARSA)
  • Ovarioleukodystrophy (EIF2B2, EIF2B4, EIF2B5)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Peroxisome biogenesis disorder 1A [Zellweger] + 1B [NALD/IRD] (PEX1)
  • Peroxisome biogenesis disorder 3A [Zellweger] + 3B (PEX12)
  • Peroxisome biogenesis disorder 4A [Zellweger] + 4B (PEX6)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined