PTEN-Related Disorders: PTEN Targeted Analysis

Turnaround Time

2 weeks

CPT Code(s)

81322

Cost

$350

Genes

• Syndromic Autism
• Bannayan-Riley-Ruvalcaba syndrome
• Cowden syndrome

PTEN mutations are associated with autism/macrocephaly and PTEN-related hamartoma tumor syndromes.

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Sequencing of the PTEN gene can detect mutations in: 20% of individuals with autism and macrocephaly 80% of individuals who meet the diagnostic criteria for Cowden syndrome 60% of individuals with a clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome 50% of individuals with Proteus-like syndrome

The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.