PTEN-related disorders : PTEN Targeted Analysis

Test Information

PTEN targeted analysis is a molecular test used to identify known variants in the gene associated with PTEN-related disorders.

Turnaround Time

6 weeks

CPT Code(s)

81322

Cost

$350

Genes

Clinical Information

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

Indications

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.

Detection

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

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

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 Testing Information

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.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Targeted Analysis, Targeted Known Variant Testing
Meet Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

In The News