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Disease Name: Cenani-Lenz-like non-syndromic oligosyndactyly

Genes Covered:

CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3, GREM1, GRIP1, HYLS1, HOXD13, ICK, KIF7, LMBR1, LRP4, MKKS, MKS1, NOG, OFD1, RAB23, RPGRIP1L, SALL1, TMEM216, TMEM67, WDPCP
Test Details Pricing

Panel: Strand Skeletal Disorders Test

Disorder Category: Polydactyly-Syndactyly-Triphalangism

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