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Disease Name: Cerebrotendinous xanthomatosis

Genes Covered:

ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR7, EBP, FGFR2, HSD3B7, LBR, MSMO1, MVK, NR1H4, NSDHL, POR, SC5D, SLC10A2, STS, TJP2, UGT1A1
Test Details Pricing

Panel: Strand Inborn Errors of Metabolism Test

Disorder Category: Disorders of the metabolism of sterols

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