PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
Use
Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS). Establishing a diagnosis of PHTS allows for targeted cancer surveillance based on associated risks. This test identifies variants within genes associated with an increased risk for PHTS, allowing predictive testing for at-risk family members.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur due to variable depth of coverage. Certain genomic regions may not be effectively evaluated due to high GC content or homology, affecting the sequencing or deletion/duplication analysis. The analysis targets single and multi-exon deletions/duplications, but balanced structural rearrangements may not be detected. Low levels of mosaicism or differentiations between somatic and germline variants may not be detected. The test is not cleared or approved by the FDA.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
PTEN
Gene
LOINC Codes
- 94223-5 - PTEN gene Del+Dup + Full Mut Anl Bld/T
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |