Short Description

NGS genetic DNA test detecets for variant and mutation detection in POT1 gene for Melanoma, cutaneous malignant, familial type 10, susceptibility to

PreTest Information

Clinical History of Patient who is going for POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic DNA Test gene POT1

Detail Description

POT1 Gene Melanoma: Familial Type 10 and Susceptibility to NGS Genetic DNA Test

Melanoma is a type of skin cancer that occurs when skin cells develop errors (mutations) in their DNA. These mutations cause the cells to grow out of control and form a malignant tumor. Although most cases of melanoma are not inherited, some families have a higher risk of developing the disease due to a specific gene mutation called POT1.

What is POT1 Gene Melanoma?

POT1 is a gene that provides instructions for making a protein that helps protect the ends of chromosomes (telomeres) from damage. Telomeres are like the protective caps on the end of shoelaces, preventing the chromosomes from unraveling and sticking to each other. When telomeres become too short or damaged, the cell is unable to divide properly and may become cancerous.

Inherited mutations in the POT1 gene have been linked to an increased risk of developing cutaneous malignant melanoma (CMM), a type of melanoma that affects the skin. Familial type 10 (FT10) is a rare form of CMM that is caused by a specific POT1 mutation. People with FT10 have a higher risk of developing melanoma at a younger age and may also have multiple tumors.

Symptoms and Diagnosis of POT1 Gene Melanoma

The symptoms of melanoma include changes in the size, shape, or color of a mole or other skin lesion. Melanomas can develop anywhere on the body, including areas that are not exposed to the sun. The ABCDE rule can help you remember what to look for:

• Asymmetry: One half of the mole doesn't match the other half.
• Border: The edges of the mole are irregular, ragged, or blurred.
• Color: The mole has different colors or shades of brown, black, or tan.
• Diameter: The mole is larger than a pencil eraser (about 6mm).
• Evolving: The mole changes in size, shape, or color over time.

If you notice any of these signs, you should see a dermatologist or other healthcare provider for evaluation. They may use a dermatoscope (a special magnifying lens) to examine the mole more closely or perform a biopsy (removal of a small piece of tissue) for laboratory testing.

NGS Genetic DNA Test for POT1 Gene Melanoma

If you have a family history of melanoma or have been diagnosed with FT10, you may want to consider genetic testing to see if you have a POT1 mutation. Next-generation sequencing (NGS) is a type of genetic test that can analyze multiple genes at once, including POT1. NGS can detect both common and rare mutations, making it a powerful tool for identifying genetic risk factors for melanoma.

The cost of NGS genetic testing for POT1 gene melanoma in India is approximately INR 20,000. The test requires a blood or saliva sample, which is sent to a laboratory for analysis. The results can take several weeks to come back, but they can provide valuable information about your risk of developing melanoma and help you make informed decisions about screening and prevention.

Conclusion

POT1 gene melanoma is a rare form of cutaneous malignant melanoma that is caused by an inherited mutation in the POT1 gene. People with FT10 have a higher risk of developing melanoma at a younger age and may also have multiple tumors. If you have a family history of melanoma or have been diagnosed with FT10, consider getting an NGS genetic test to see if you have a POT1 mutation. The cost of the test in India is approximately INR 20,000.

At DNA Labs India, we offer NGS genetic testing and other advanced DNA testing services to help you understand your genetic risk factors for various diseases. Contact us today to learn more about our services and how we can help you make informed decisions about your health.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic DNA Test