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Disease Name: Nephropathy due to CFHR5 deficiency

Genes Covered:

C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CFD, CFH, CFHR5, CFI, CFP, COLEC11, CR2, FCN3, ITGB2, MASP2, SERPING1, THBD
Test Details Pricing

Panel: Strand Clinical Exome Test

Disorder Category: Complement deficiencies

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