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Disease Name: Townes-Brocks Syndrome

Genes Covered:

ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH, CFHR5, COL4A1, CPT2, DHCR7, FGF20, FN1, FREM1, GATA3, GPC3, H19, HSD11B2, IFT140, JAG1, KAT6B, KMT2D, LRP4, MBTPS2, MKKS, NEK8, NIPBL, NOTCH2, NPHP3, NSD1, SALL1, SALL4, SLC17A3, SLC2A9, SPRY2, TMEM138, TMEM216, VIPAS39, VPS33B, WNT4
Test Details Pricing

Panel: Strand Nephrological Disorders Test

Disorder Category: Other renal 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