PTEN Gene Cowden syndrome type 1 NGS Genetic Test
Short Name: PTEN Cowden Syndrome NGS Test
Also known as: PTEN Mutation Analysis, Cowden Syndrome Genetic Test, PTEN Gene Sequencing Test, PTEN Hamartoma Tumor Syndrome Test, Hereditary Cancer Gene Panel - PTEN
PTEN Gene Cowden syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are delivered via the online portal, email, and WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the PTEN gene that cause Cowden syndrome type 1. Detection of such mutations confirms a molecular diagnosis, enables targeted cancer surveillance and risk management, informs treatment decisions, and allows for cascade testing of at-risk family members. This test is intended for diagnostic confirmation, predictive testing in at-risk individuals, and carrier identification within families.
- Test Code
- 2863
- CPT Code
- 81405
- ICD Code
- Q85.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are delivered via the online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Analysis
Sample Collection
A genetic counseling session is recommended prior to sample collection to discuss the implications of testing, obtain informed consent, and draw a pedigree chart of family members affected with Cowden syndrome or related cancers. Provide complete clinical history of the patient including personal and family cancer history.
Method: Venipuncture / FTA Card Prick
Laboratory Analysis
A venous blood sample of 3-5 mL is collected in an EDTA (lavender top) tube under aseptic conditions. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample is labeled with patient identifiers and transported under appropriate conditions.
Report Delivery
The sample is processed in the molecular genetics laboratory for DNA extraction, library preparation, and NGS sequencing. Results are typically available within 3 to 4 weeks. A post-test genetic counseling session is provided to interpret results and discuss next steps.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are delivered via the online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the PTEN gene that cause Cowden syndrome type 1. Detection of such mutations confirms a molecular diagnosis, enables targeted cancer surveillance and risk management, informs treatment decisions, and allows for cascade testing of at-risk family members. This test is intended for diagnostic confirmation, predictive testing in at-risk individuals, and carrier identification within families.
How to Prepare
- No fasting is required prior to sample collection
- Provide complete clinical history and family pedigree information at the time of booking
- Ensure the EDTA tube is gently inverted 8-10 times after blood collection to prevent clotting
- If using an FTA card, allow the blood spot to air dry completely before packaging
- Store the sample at ambient room temperature and transport to the laboratory within 48 hours
- Carry a valid government-issued photo ID and the test requisition form during sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Cowden syndrome significantly increases the risk of endometrial and breast cancers. Women with a family history of PTEN mutations or clinical features of Cowden syndrome should undergo genetic testing as early identification enables proactive cancer surveillance, including earlier and more frequent mammograms, thyroid ultrasounds, and endometrial biopsies. Genetic counseling before and after testing is essential to help patients understand the implications for themselves and their family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labeling
- Clotted or hemolyzed EDTA blood sample
- Sample received in a non-EDTA anticoagulant tube
- Insufficient sample volume for DNA extraction
- Sample contaminated or improperly stored during transit
- Missing or incomplete test requisition form and clinical history
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the PTEN gene has been identified. This confirms a diagnosis of Cowden syndrome type 1 or PTEN hamartoma tumor syndrome. The patient is at significantly elevated risk for breast, thyroid, endometrial, renal, and colorectal cancers. Enhanced cancer surveillance, risk-reducing strategies, and cascade testing of first-degree relatives are strongly recommended.
Clinical action: Initiate enhanced cancer screening protocol including annual breast MRI and mammography, annual thyroid ultrasound, and consideration of risk-reducing surgeries. Refer to genetic counseling for family cascade testing.
Likely Pathogenic Variant Detected
A variant in the PTEN gene that is strongly suspected to be disease-causing has been identified based on available evidence. Clinical management should be similar to a pathogenic variant result. Ongoing research may reclassify this variant as pathogenic over time.
Clinical action: Manage as pathogenic variant. Recommend enhanced cancer surveillance and family cascade testing. Periodic variant reclassification review is advised.
Variant of Uncertain Significance (VUS)
A genetic variant in the PTEN gene has been identified, but current evidence is insufficient to determine whether it is disease-causing or benign. This result should not be used alone to guide clinical management decisions.
Clinical action: Clinical management should be based on personal and family history rather than the VUS result alone. Recommend periodic reanalysis as new data becomes available. Genetic counseling is essential to discuss implications.
No Pathogenic Variant Detected (Negative)
No disease-causing mutations were identified in the PTEN gene. This significantly reduces the likelihood of Cowden syndrome type 1 but does not completely exclude it, as mutations in other genes or undetectable rearrangements may be responsible.
Clinical action: If clinical suspicion remains high, consider additional genetic testing including other hereditary cancer genes or deletion/duplication analysis. Continue clinical surveillance based on personal and family history.
Deletion or Duplication Detected (CNV)
A large deletion or duplication involving the PTEN gene has been identified. This type of structural variant can disrupt gene function and cause Cowden syndrome. Confirmation by an alternative method such as MLPA may be performed.
Clinical action: Confirmatory testing recommended. Manage as per pathogenic variant guidelines. Offer cascade testing to family members.
Consult your doctor or genetic counselor if you have a family history of Cowden syndrome, multiple hamartomas, early-onset breast or thyroid cancer, or any clinical features suggestive of a PTEN hamartoma tumor spectrum disorder. You should also consult a healthcare provider if you receive a positive, likely positive, or VUS result on this test to understand the implications for your health management and for your family members.
Limitations
- ⚠This test does not detect large genomic rearrangements outside the targeted PTEN gene region unless specifically included in CNV analysis
- ⚠Deep intronic mutations and regulatory region variants outside the coding sequence may not be captured
- ⚠A negative result does not completely exclude Cowden syndrome as other genes or non-genetic factors may be involved
- ⚠Variants of uncertain significance (VUS) require periodic reclassification as new evidence becomes available
- ⚠This test is not designed to detect somatic mutations in tumor tissue; it analyzes germline DNA only
Risks & Considerations
- ●Blood draw may cause minor bruising, pain, or swelling at the puncture site
- ●Psychological distress or anxiety related to test results, particularly if a pathogenic variant is identified
- ●Potential implications for life insurance, health insurance, or employment (consult local genetic non-discrimination laws)
- ●Emotional impact on family members who may also be at risk and require testing
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing accuracy
- ●Recent blood transfusion within the past 4 weeks may affect results if blood sample is used
- ●Mosaicism at low levels may not be detectable by standard NGS methodology
- ●Presence of pseudogenes or homologous sequences may require additional confirmatory testing
Compare With Similar Tests
| Test | PTEN Gene Cowden syndrome type 1 NGS Genetic Test | BRCA1/BRCA2 Gene Test | Comprehensive Hereditary Cancer Panel | TP53 Gene Test (Li-Fraumeni Syndrome) |
|---|---|---|---|---|
| Comparison | PTEN Gene Cowden syndrome type 1 NGS Genetic Test | While BRCA1/BRCA2 testing focuses on hereditary breast and ovarian cancer, PTEN testing targets Cowden syndrome which carries a distinct cancer spectrum including thyroid and endometrial cancers. Both are NGS-based germline tests but address different hereditary cancer syndromes. | A comprehensive panel may include PTEN along with dozens of other cancer predisposition genes. The standalone PTEN test is more targeted and cost-effective when Cowden syndrome is specifically suspected based on clinical features. | TP53 testing is for Li-Fraumeni syndrome which also increases cancer risk but involves a different gene and cancer spectrum. PTEN and TP53 mutations may present with overlapping features such as breast cancer, making molecular differentiation important for tailored management. |
Frequently Asked Questions
What is the PTEN Gene Cowden Syndrome Type 1 NGS Genetic Test?
Who should get the PTEN Gene Cowden Syndrome Genetic Test?
What sample is required for the PTEN Gene NGS Genetic Test?
How much does the PTEN Gene Cowden Syndrome Type 1 NGS Genetic Test cost?
How long does it take to get the results of the PTEN Gene Genetic Test?
What does a positive PTEN Gene test result mean?
What does a negative PTEN Gene test result mean?
What is a Variant of Uncertain Significance (VUS)?
Does DNA Labs India share raw genetic data files?
Is genetic counseling included with the PTEN Gene test?
Can this test be done for children or prenatal testing?
Is home sample collection available for the PTEN Gene Genetic Test?
Related Tests
Comprehensive Leukemia Panel (SNVs, Small INDELs and CNVs)
₹33,000XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic Test
₹20,000CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test
₹20,000PTCH1 Gene Basal cell nevus syndrome NGS Genetic Test
₹20,000ATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test
₹20,000MSH6 Gene Endometrial cancer, familial, MSH6 related NGS Genetic Test
₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.