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Disease Name: Natural killer cell and glucocorticoid deficiency with DNA repair defect

Genes Covered:

CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, STAT1, TMC6, TMC8, TRAF3IP2
Test Details Pricing
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Panel: Strand Clinical Exome Test

Disorder Category: Defects in innate immunity

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