ExonArray Testing

Tests Available

Forms and Documents

Test Details

  • As a primary test in a Mendelian disorder due to haploinsufficiency when sequence analysis fails to identify a causative mutation
  • Evaluate for deletions or duplications when a single mutation has been identified for a recessive disorder
  • Confirmation test for deletion or duplication detected by MLPA or qPCR
  • Exon Array CGH

Ordering

703
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

Varies by Gene
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. del Gaudio D et al. Hum Mutat 29:1100-1107, 2008
  2. Saillour Y et al. Hum Mutat 29:1083-1090, 2008
  3. Staaf J et al. Hum Mutat 29:555-564, 2008
  4. Hegde MR et al. Hum Mutat 29:1091-1099, 2008
  5. Wong LJ et al. Clin Chem 54:1141- 1148, 2008
  6. Dhami P et al. Am J Hum Genet 76:750-762, 2005.