PTEN Hamartoma Tumor Syndrome via the PTEN Gene
Use
This test is for individuals who exhibit features consistent with a diagnosis of PTEN hamartoma tumor syndrome, including those with autism spectrum disorder and macrocephaly. It is also applicable for individuals who have a family member believed to have PTEN hamartoma tumor syndrome without prior genetic testing, or those without access to specific variant information for a genetically-confirmed family member. The test helps in confirming clinical diagnosis by identifying disease-causing variants in the PTEN gene.
Special Instructions
To order this test, a requisition form must be completed and can be faxed if not ordering through the online platform myPrevent. Institutions may arrange for billing. New York State-specific instructions require additional documentation if collected within the state. STAT testing options are available, adding a 25% surcharge if the report is not delivered within the specified timeframe.
Limitations
This genetic test is performed using NGS with CNV analysis and is validated according to CLIA and CAP standards. However, it has not been cleared or approved by the FDA, thus results should be integrated with clinical insights for a comprehensive assessment. The test may not capture all variants, particularly those outside the targeted regions or types not detectable by NGS and CNV methods. Notably, environmental factors, mosaicism, or epigenetic changes might not be revealed through this standard platform.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided