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Disease Name: Cerebrooculofacioskeletal syndrome

Genes Covered:

BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH, RECQL4, RNF113A, UVSSA, WRN, XPA, XPC

Test DetailsPricing

Panel: Strand Dermatological Disorders Test

Disorder Category: DNA repair disorders with cutaneous features

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