Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIT gene for Piebaldism

PreTest Information

Clinical History of Patient who is going for KIT Gene Piebaldism NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KIT Gene Piebaldism NGS Genetic DNA Test gene KIT

Detail Description

DNA Labs India: KIT Gene Piebaldism NGS Genetic DNA Test

Piebaldism is a rare genetic disorder that affects the pigmentation of the skin and hair. It is caused by mutations in the KIT gene, which provides instructions for making a protein that is essential for the development and maintenance of melanocytes, the cells that produce melanin.

Symptoms of Piebaldism

The main symptom of piebaldism is a patchy depigmentation of the skin and hair, which typically appears at birth or in early childhood. The affected areas are usually white or light-colored, and they may be irregularly shaped or have sharp boundaries.

In some cases, piebaldism may also be associated with other features, such as:

• Heterochromia iridis (different colored eyes)
• Deafness
• Abnormalities of the digestive system, such as Hirschsprung disease

Diagnosis of Piebaldism

Piebaldism can usually be diagnosed based on the characteristic depigmentation patterns and family history. However, genetic testing can confirm the diagnosis and identify the specific mutation in the KIT gene that is responsible.

DNA Labs India offers a KIT Gene Piebaldism NGS Genetic DNA Test, which uses next-generation sequencing technology to analyze the entire coding region of the KIT gene. This test is highly accurate and can detect mutations that are not detectable by other methods.

Cost of KIT Gene Piebaldism NGS Genetic DNA Test

The cost of the KIT Gene Piebaldism NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of sample collection, DNA extraction, sequencing, and analysis.

Benefits of Genetic Testing

Genetic testing can provide valuable information for individuals and families affected by piebaldism. Some of the benefits of genetic testing include:

• Confirmation of diagnosis
• Identification of the specific mutation
• Predictive testing for family members
• Reproductive planning
• Access to clinical trials and experimental treatments

Conclusion

Piebaldism is a rare genetic disorder that can have significant effects on the appearance and health of affected individuals. Genetic testing can provide valuable information for diagnosis, treatment, and family planning. DNA Labs India offers a KIT Gene Piebaldism NGS Genetic DNA Test at an affordable cost, providing a reliable and accurate option for individuals and families affected by this condition.