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PTCH1 Gene Sequencing & Del/Dup

New York
Approved


Genes

PTCH1

Conditions

  • Gorlin Syndrome
  • Nevoid basal cell carcinoma syndrome
  • Basal cell nevus syndrome

Clinical Utility

  • An individual presenting with numerous basal cell carcinomas (BCCs) (>5 in a lifetime) or a BCC before age 30 years
  • An individual with fewer than 5 BCC but with other suggestive features of nevoid basal cell carcinoma syndrome (NBCCS) may also be appropriate for testing (see features below)
  • An individual presenting with one or more associated features of NBCCS, such as lamellar calcification of the falx before age 20 years, multiple palmar pits, jaw keratocyst, childhood medulloblastoma, ovarian and/or cardiac fibroma, vertebral/rib anomalies (e.g. bifid/splayed/extra ribs; bifid vertebrae), macrocephaly, among others
  • An unaffected individual with a family history suggestive of NBCCS when the affected individual is unavailable for his or her own genetic testing

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

205

CPT Codes*

81479x1

ABN Required

No

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.