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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessFolic acid deficiency, cerebral; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for cerebral folic acid deficiency comprising 4 curated genes according to the clinical signs

ID
FP7756
Number of genes
4 Accredited laboratory test
Examined sequence length
4,7 kb (Core-/Core-canditate-Genes)
- (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-GReferenz-Seq.Heredity
DHFR564NM_000791.4AR
FOLR1774NM_016725.3AR
MTHFR1971NM_005957.5AR
SLC46A11297NM_001242366.3AR

Informations about the disease

Clinical Comment

Cerebral folate deficiency: low levels of 5-methyltetrahydrofolate in CSF with normal levels in plasma + erythrocytes; symptoms start at 4-6 months, delayed development with deceleration of head growth, hypotonia, ataxia, in 1/3 of children by dyskinesias (choreo-athetosis, hemiballismus), spasticity, speech difficulties, epilepsy

 

Synonyms
  • Alias: Cerebral folate deficiency
  • Alias: FOLR1 deficiency
  • Alias: Neurodegeneration due to cerebral folate transport deficiency
  • Folate malabsorption, hereditary (SCL46A1)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFR)
  • Methylenetetrahydrofolate reductase deficiency (MTHFR)
  • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined