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Disease Name: Poikiloderma with neutropenia

Genes Covered:

BLM, CTC1, DKC1, FERMT1, NHP2, NOP10, RECQL4, TERC, TERT, TINF2, USB1, WRAP53
Test Details Pricing
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Panel: Strand Dermatological Disorders Test

Disorder Category: Poikiloderma Syndromes

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