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PTEN Gene Sequencing and Del/Dup

New York




  • Cowden Syndrome
  • Proteus Syndrome/Proteus-like Syndrome
  • PTEN associated Macrocephaly/Autism Syndrome
  • PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome
  • Autism spectrum disorders
  • Bannayan-Riley-Ruvalcaba Syndrome

Clinical Utility

  • 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

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*

81321x1, 81323x1

ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.