Forms and Documents
Test Details
Expand Genes
PTEN
- An adult with features of PTEN hamartoma tumor syndrome (PHTS), such as characteristic skin lesions (trichilemmomas, acral keratoses, papillomas, lipomas, etc.), macrocephaly, gastrointestinal polyps (especially hamartomas or ganglioneuromas), Lhermitte-Duclos disease, or associated cancers (breast, endometrial, non-medullary thyroid, renal, melanoma, colon), among other features
- A child with early-onset features of PHTS, such as macrocephaly, autism, developmental delay, lipomas, penile freckling, or vascular anomalies, among other features
- An unaffected individual with a family history suggestive of PHTS (see above) when an affected individual is unavailable for his or her own genetic testing
Ordering
195
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81321x1, 81323x1
Yes
Yes
For price inquiries please email zebras@genedx.com
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
References
- Eng, C. Hum Mutat. 22: 183-98, 2003
- Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
- Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
- Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
- Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
- Zhou, X.P. et al. Lancet. 358: 210-1, 2001
- Barker, K. et al. J Med Genet. 38: 480-1, 2001
- Smith, J.M. et al., J Med Genet. 39: 937-40, 2002