Short Description

NGS genetic DNA test detecets for variant and mutation detection in MBTPS2 gene for Keratosis follicularis spinulosa declavans, X-linked

PreTest Information

Clinical History of Patient who is going for MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic DNA Test gene MBTPS2

Detail Description

MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans, X-linked NGS Genetic DNA Test

Keratosis follicularis spinulosa declavans (KFSD) is a rare genetic disorder that affects the skin, causing small, raised bumps that can be itchy and uncomfortable. It is caused by mutations in the MBTPS2 gene, which provides instructions for making a protein that is important for the development and maintenance of the skin.

KFSD is inherited in an X-linked pattern, meaning that it primarily affects males. Females can also be affected, but their symptoms are usually less severe. The condition is caused by mutations in the MBTPS2 gene, which is located on the X chromosome.

Symptoms of MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans

The symptoms of KFSD usually appear in early childhood and can include:

• Small, raised bumps on the skin
• Redness and inflammation around the bumps
• Itching and discomfort
• Scaling and flaking of the skin

The bumps usually appear on the face, neck, and upper arms, but can also occur on other parts of the body. The severity of the symptoms can vary widely, even among family members with the same mutation.

Diagnosis of MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans

Diagnosis of KFSD is usually based on a physical examination and a review of the patient's medical history and symptoms. A skin biopsy may also be performed to confirm the diagnosis.

A genetic test can also be used to diagnose KFSD. This test looks for mutations in the MBTPS2 gene and can confirm a diagnosis even in cases where the symptoms are mild or atypical.

NGS Genetic DNA Test for MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans

Next-generation sequencing (NGS) is a powerful tool that can be used to analyze multiple genes at once, quickly and accurately. An NGS genetic DNA test can be used to diagnose KFSD by sequencing the MBTPS2 gene and identifying any mutations.

The cost of an NGS genetic DNA test for MBTPS2 gene keratosis follicularis spinulosa declavans in India is approximately INR 20,000.

Conclusion

MBTPS2 gene keratosis follicularis spinulosa declavans is a rare genetic disorder that affects the skin. It is caused by mutations in the MBTPS2 gene and is inherited in an X-linked pattern. Symptoms can include small, raised bumps on the skin, redness, itching, and discomfort. Diagnosis is usually based on a physical exam and a review of the patient's medical history and symptoms, but a genetic test can also be used to confirm the diagnosis. An NGS genetic DNA test can be used to sequence the MBTPS2 gene and identify any mutations. The cost of this test in India is approximately INR 20,000.

If you or a loved one is experiencing symptoms of KFSD, it is important to talk to a doctor or genetic counselor to determine the best course of action.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for MBTPS2 gene keratosis follicularis spinulosa declavans. Our team of experienced genetic counselors and scientists can help you understand your test results and provide guidance on any next steps. Contact us today to learn more.