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Disease Name: Neurodegeneration due to cerebral folate transport deficiency

Genes Covered:

ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, MECP2, MTHFR, PAH, PCBD1, PHGDH, PNPO, PSPH, PTS, QDPR, SLC46A1, SPR, TH
Test Details Pricing

Panel: Strand Inborn Errors of Metabolism Test

Disorder Category: Disorders of neurotransmitters metabolism

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request