Short Description

NGS genetic DNA test detecets for variant and mutation detection in BMPR1B gene for Brachydactyly type A2

PreTest Information

Clinical History of Patient who is going for BMPR1B Gene Brachydactyly type A2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BMPR1B Gene Brachydactyly type A2 NGS Genetic DNA Test gene BMPR1B

Detail Description

BMPR1B Gene Brachydactyly type A2 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Brachydactyly type A2 is a rare genetic disorder that affects the development of fingers and toes. It is caused by mutations in the BMPR1B gene, which provides instructions for making a protein that helps regulate bone growth and development. Individuals with Brachydactyly type A2 have short, stubby fingers and toes that may be curved or fused together. The severity of the condition can vary widely, even among members of the same family.

Symptoms of Brachydactyly type A2

The most common symptom of Brachydactyly type A2 is short, stubby fingers and toes. The fingers and toes may also be curved or fused together. In some cases, individuals with Brachydactyly type A2 may have difficulty with fine motor tasks that require dexterity, such as playing a musical instrument or typing on a keyboard.

Diagnosis of Brachydactyly type A2

Brachydactyly type A2 is typically diagnosed through a physical examination and family history. Genetic testing can also be used to confirm a diagnosis and identify the specific mutation in the BMPR1B gene. Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations, allowing for a more comprehensive and accurate analysis of an individual's DNA.

BMPR1B Gene Brachydactyly type A2 NGS Genetic DNA Test Cost in India

DNA Labs India offers a BMPR1B Gene Brachydactyly type A2 NGS Genetic DNA Test for INR 20,000. This test uses next-generation sequencing technology to identify mutations in the BMPR1B gene that are associated with Brachydactyly type A2. The test is performed on a blood or saliva sample and results are typically available within 2-3 weeks.

Conclusion

Brachydactyly type A2 is a rare genetic disorder that affects the development of fingers and toes. It can be diagnosed through a physical examination, family history, and genetic testing. DNA Labs India offers a BMPR1B Gene Brachydactyly type A2 NGS Genetic DNA Test for INR 20,000, which uses next-generation sequencing technology to identify mutations in the BMPR1B gene. Early diagnosis and treatment can help individuals with Brachydactyly type A2 manage their symptoms and improve their quality of life.

For more information on the BMPR1B Gene Brachydactyly type A2 NGS Genetic DNA Test, contact DNA Labs India today.