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Disease Name: Van Buchem disease

Genes Covered:

AMER1, CA2, CLCN7, IKBKG, LEMD3, LRP5, MITF, OSTM1, PLEKHM1, SNX10, SQSTM1, TCIRG1, TNFRSF11A, TNFRSF11B, TNFSF11
Test Details Pricing

Panel: Strand Skeletal Disorders Test

Disorder Category: Osteopetrosis and related 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