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Disease Name: Chediak-Higashi syndrome

Genes Covered:

ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, IKBKG, KIT, KITLG, KRT14, KRT5, LYST, MITF, MLPH, MYO5A, NHP2, NLRP1, NOP10, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, STK11, TERT, TINF2, TYR, TYRP1, WRAP53
Test Details Pricing

Panel: Strand Dermatological Disorders Test

Disorder Category: Pigmentation disorders

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