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POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic Test

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POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic Test

Short Name: POT1 Gene Melanoma NGS Test

Also known as: Familial Melanoma Type 10, POT1-Related Melanoma, Hereditary Melanoma Genetic Test

POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the POT1 gene that increase susceptibility to familial melanoma type 10, enabling early risk assessment, personalized screening, and preventive interventions for high-risk individuals.

Test Code
2895
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo a genetic counseling session to draw a pedigree chart of family members affected with melanoma. No fasting is required.

Method: Blood Draw or Saliva Collection

Step 2

Laboratory Analysis

Blood draw or saliva collection performed by a trained phlebotomist following standard aseptic procedures.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis. Results are available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required. No special preparation or fasting needed.
2
During the Test:Sample collection via blood draw or saliva. Procedure is quick and minimally invasive.
3
After the Test:Sample processed in lab; results delivered in 3-4 weeks. Follow-up counseling recommended.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the POT1 gene that increase susceptibility to familial melanoma type 10, enabling early risk assessment, personalized screening, and preventive interventions for high-risk individuals.

How to Prepare

  • No fasting required
  • Provide informed consent and prescription
  • Bring valid ID and medical records
  • Avoid eating or drinking 30 minutes before saliva collection if applicable

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for POT1 mutations is crucial for identifying individuals at high risk for familial melanoma, enabling early surveillance and personalized prevention strategies to improve outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or Saliva Collection

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week at 2-8°C
FTA card samples stable for longer periods at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed, clotted, or contaminated sample
  • Incorrect patient identification or labeling
  • Sample received beyond stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the POT1 gene, which are associated with increased risk for familial melanoma type 10.
Positive Result: Pathogenic POT1 mutation detected, indicating significantly increased risk for familial melanoma. Enhanced screening and preventive measures recommended.
Negative Result: No pathogenic mutations found in the POT1 gene. Risk may still exist due to other genetic or environmental factors; continue standard surveillance.
Variant of Uncertain Significance (VUS): A genetic variant was identified but its clinical significance is unknown. Further testing, family studies, and genetic counseling are advised.
⚠️ When to Consult a Doctor:

Consult a dermatologist, oncologist, or genetic counselor if you have a family history of melanoma, notice changes in moles (using the ABCDE rule), or receive a positive test result for guidance on screening and prevention.

Limitations

  • May not detect all genetic variants or mutations
  • Results do not confirm a diagnosis of melanoma
  • Requires interpretation by a genetic counselor or healthcare professional
  • Limited to POT1 gene analysis; other genetic factors may contribute to risk

Risks & Considerations

  • Psychological distress from results
  • Potential insurance or employment implications
  • False sense of security with negative results

Interfering Factors

  • Sample degradation or contamination
  • Technical errors during sequencing
  • Insufficient DNA quality or quantity

Compare With Similar Tests

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ComparisonPOT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic Test

Frequently Asked Questions

What is the POT1 gene?
The POT1 gene provides instructions for making a protein that protects telomeres, the ends of chromosomes. Mutations in this gene can lead to increased risk of familial melanoma.
What is familial melanoma type 10?
Familial melanoma type 10 (FT10) is a rare hereditary condition caused by mutations in the POT1 gene, leading to a higher risk of developing cutaneous malignant melanoma at a younger age and with multiple tumors.
How is the NGS genetic test performed?
The test uses next-generation sequencing (NGS) to analyze the POT1 gene from a blood or saliva sample. The sample is processed in a lab to detect mutations.
What is the cost of the POT1 gene melanoma test?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, analysis, and report generation.
Who should consider this genetic test?
Individuals with a family history of melanoma, personal history of multiple melanomas, early-onset melanoma, or known familial melanoma type 10 should consider testing.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What do the results mean?
A positive result indicates a POT1 mutation, increasing melanoma risk. A negative result means no mutation was found, but risk may still exist. A variant of uncertain significance requires further evaluation.
Are there any risks to genetic testing?
Risks include psychological distress, potential insurance implications, and the possibility of uncertain results. Genetic counseling helps mitigate these risks.
How accurate is the test?
NGS is highly accurate for detecting known mutations, but no test is 100% foolproof. Results should be interpreted by a genetic counselor.
Can insurance cover the cost of this test?
Coverage varies by insurance provider and policy. It is advisable to check with your insurer beforehand. DNA Labs India does not guarantee insurance coverage.
What should I do after receiving results?
Consult a genetic counselor or healthcare provider to understand the implications, discuss screening options, and develop a personalized prevention plan.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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