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Disease Name: Dentinogenesis imperfecta

Genes Covered:

ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MMP2, NOTCH2, P3H1, PLOD2, PLOD3, PPIB, PYCR1, SERPINF1, SERPINH1, SLC7A7, SP7, TMEM165, VDR, XYLT2
Test Details Pricing

Panel: Strand Skeletal Disorders Test

Disorder Category: Osteogenesis imperfecta (OI) and decreased bone density

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