PTEN-related disorders : PTEN Deletion/Duplication (MLPA)

Test Information

PTEN Deletion/Duplication (MLPA) is a molecular test used to detect deletions and duplications in the gene associated with PTEN-related disorders including Cowden syndrome and Bannayan-Riley Ruvalcaba syndrome.

Turnaround Time

2 weeks

CPT Code(s)

81323

Cost

$500

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

Deletion/Duplication, MLPA, Molecular Testing
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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