Test Name	POLH Gene Xeroderma pigmentosum, variant type NGS Genetic DNA Test
Test type	Dermatologist
Pre-test Information	Clinical History of Patient who is going for POLH Gene Xeroderma pigmentosum, variant type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLH Gene Xeroderma pigmentosum, variant type NGS Genetic DNA Test gene POLH
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLH gene for Xeroderma pigmentosum, variant type

PreTest Information

Clinical History of Patient who is going for POLH Gene Xeroderma pigmentosum, variant type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLH Gene Xeroderma pigmentosum, variant type NGS Genetic DNA Test gene POLH

Detail Description

POLH Gene Xeroderma Pigmentosum, Variant Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the skin and eyes. It is caused by a defect in the DNA repair system, which makes affected individuals extremely sensitive to sunlight. There are several different types of XP, one of which is caused by a variant in the POLH gene. In this blog, we will discuss this variant type of XP, the symptoms, diagnosis, and the cost of the NGS genetic DNA test for it.

What is the POLH Gene?

POLH is a gene that provides instructions for making a protein called DNA polymerase eta. This protein is involved in the process of DNA replication and repair. When the DNA is damaged, the polymerase eta protein helps to repair it. However, if there is a variant in the POLH gene, the protein may not function properly, leading to a higher risk of developing skin cancer and other skin conditions.

What is Xeroderma Pigmentosum, Variant Type?

Xeroderma pigmentosum variant type is a rare subtype of XP that is caused by a variant in the POLH gene. This variant type of XP is less severe than other types of XP, but individuals with this condition are still at a higher risk of developing skin cancer and other skin conditions.

Symptoms of Xeroderma Pigmentosum, Variant Type

The symptoms of Xeroderma pigmentosum, variant type are similar to other types of XP and may include:

• Skin freckling
• Blistering and peeling of the skin after sun exposure
• Dry, rough, and scaly skin
• Development of small, rough, and scaly patches on the skin
• Premature aging of the skin
• Eye problems, such as photophobia, conjunctivitis, and clouding of the cornea

Diagnosis of Xeroderma Pigmentosum, Variant Type

Xeroderma pigmentosum, variant type is diagnosed through genetic testing. A small sample of blood or saliva is collected and analyzed for the presence of a variant in the POLH gene. If a variant is found, a diagnosis of XP variant type can be made.

NGS Genetic DNA Test Cost for Xeroderma Pigmentosum, Variant Type

The cost of the NGS genetic DNA test for Xeroderma pigmentosum, variant type in India is approximately INR 20,000. This test is performed by DNA Labs India, a leading genetics laboratory in the country. The test is non-invasive and involves the collection of a small sample of blood or saliva. The results of the test are available within a few weeks.

Conclusion

Xeroderma pigmentosum, variant type is a rare genetic disorder that is caused by a variant in the POLH gene. Individuals with this condition are at a higher risk of developing skin cancer and other skin conditions. The diagnosis of XP variant type is made through genetic testing, and the cost of the NGS genetic DNA test for it is approximately INR 20,000 in India. If you suspect that you or a loved one may have XP variant type, it is important to seek medical attention and undergo genetic testing to confirm the diagnosis.

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 POLH Gene Xeroderma pigmentosum, variant type NGS Genetic DNA Test