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IllnessMorbus Krabbe, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Morbus Krabbe comprising 9 curated genes according to the clinical signs

ID
MP1199
Number of loci
Loci typeCount
Gen9
Accredited laboratory test
Examined sequence length
13,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCD12238NM_000033.4XLR
ARSA1530NM_000487.6AR
ASPA942NM_000049.4AR
GALC2058NM_000153.4AR
GFAP1299NM_002055.5AD
HEXA1590NM_000520.6AR
LMNB11761NM_005573.4AD
PLP1834NM_000533.5XLR
PSAP1575NM_002778.4AR

Informations about the disease

Synonyms
  • Alias: GALC deficiency
  • Alias: Galactocerebrosidase deficiency
  • Alias: Galactosylceramide beta-galactosidase deficiency
  • Alias: Globoid cell leukencephalopathy
  • Alias: Globoid cell leukodystrophy
  • Alias: Krabbe disease (GALC)
  • Allelic: Microcephaly 26, primary, AD (LMNB1)
  • Allelic: Spastic paraplegia 2, XL (PLP1)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Alexander disease (GFAP)
  • Canavan disease (ASPA)
  • Combined SAP deficiency (PSAP)
  • GM2-gangliosidosis, several forms (HEXA)
  • Gaucher disease, atypical (PSAP)
  • Hex A pseudodeficiency (HEXA)
  • Krabbe disease, atypical (PSAP)
  • Leukodystrophy, adult-onset, AD (LMNB1)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Tay-Sachs disease (HEXA)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined