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Disease Name: Acrocallosal syndrome

Genes Covered:

ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2D2A, CEP290, CEP41, DYNC2H1, EVC, EVC2, GLI3, IFT122, IFT140, IFT43, IFT80, INPP5E, KIF7, LZTFL1, MKKS, MKS1, NEK1, NPHP3, OFD1, RPGRIP1, RPGRIP1L, SDCCAG8, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR35

Test DetailsPricing

Panel: Strand Skeletal Disorders Test

Disorder Category: Ciliopathies with major skeletal involvement

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