PTEN-related syndromes – PTEN Sequencing and MLPA

Disorders Autism with macrocephaly
Bannayan-Riley Ruvalcaba syndrome
Cowden syndrome
Proteus-like syndromes
Gene Name PTEN
Clinical info 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 mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests Deletion/duplication analysis for PTEN via multiplex ligation-dependent probe amplification (MLPA) is also available upon request.
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 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. 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.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is 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.
CPT Codes Unknown mutation

Known mutation

MLPA deletion/duplication analysis
Cost $1200 for sequencing
$350 for known mutation
$500 for MLPA deletion/duplication analysis
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

Find out more