Short Description

NGS genetic DNA test detecets for variant and mutation detection in ROR2 gene for Brachydactyly type B1

PreTest Information

Clinical History of Patient who is going for ROR2 Gene Brachydactyly type B1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ROR2 Gene Brachydactyly type B1 NGS Genetic DNA Test gene ROR2

Detail Description

ROR2 Gene Brachydactyly Type B1 NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Brachydactyly type B1 is a rare genetic disorder that affects the fingers and toes. It is caused by mutations in the ROR2 gene. This gene provides instructions for making a protein that is involved in the development of bones and joints.

Individuals with brachydactyly type B1 have short fingers and toes that may be curved or missing bones. The severity of the condition can vary widely, with some individuals having only mild abnormalities and others having more severe deformities that can affect their ability to use their hands and feet.

Symptoms of brachydactyly type B1 may include:

• Short fingers and toes
• Curved fingers and toes
• Missing bones in the fingers and toes
• Difficulty using the hands and feet

Diagnosis of brachydactyly type B1 is typically made through a physical exam and medical history. Genetic testing can also be used to confirm the diagnosis and identify the specific mutation in the ROR2 gene that is causing the condition.

NGS (Next Generation Sequencing) genetic testing is a type of DNA test that can identify mutations in multiple genes at once. This can be useful for individuals with complex medical histories or multiple genetic conditions. The cost of NGS genetic testing for brachydactyly type B1 in India is typically around INR 20,000.

It is important for individuals with brachydactyly type B1 to receive appropriate medical care and management. This may include physical therapy, assistive devices, and surgery in some cases.

Overall, brachydactyly type B1 is a rare genetic condition that can affect the fingers and toes. Diagnosis is typically made through a physical exam and genetic testing, and treatment may include a variety of medical interventions. NGS genetic testing can be a useful tool in identifying the specific mutation causing the condition and guiding treatment decisions.

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 ROR2 Gene Brachydactyly type B1 NGS Genetic DNA Test