Short Description

NGS genetic DNA test detecets for variant and mutation detection in BICD2 gene for Spinal muscular atrophy, lower extremity, autosomal dominant, type 2

PreTest Information

Clinical History of Patient who is going for BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2

Detail Description

BICD2 Gene Spinal Muscular Atrophy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the control of muscle movement. It is caused by the loss of nerve cells in the spinal cord and brainstem that control muscle movement. SMA can be classified into several types based on the age of onset and severity of symptoms. One such type is Lower Extremity Autosomal Dominant Type 2 (SMALED2), which is caused by mutations in the BICD2 gene.

Symptoms of SMALED2

SMALED2 is a rare form of SMA that primarily affects the lower extremities. The symptoms of SMALED2 can vary depending on the age of onset and severity of the disease. Some common symptoms of SMALED2 include:

• Muscle weakness and atrophy in the legs
• Difficulty walking and running
• Frequent falls
• Foot deformities, such as high arches or flat feet
• Loss of reflexes in the legs

Diagnosis of SMALED2

SMALED2 is diagnosed through genetic testing. A blood sample is taken from the patient and analyzed for mutations in the BICD2 gene. If a mutation is found, the patient is diagnosed with SMALED2. Genetic testing can also be used to determine if someone is a carrier of the disease.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India can vary depending on the laboratory and the specific test being performed. At DNA Labs India, the cost of the NGS Genetic DNA Test for SMALED2 is INR 20,000. This test is performed using Next Generation Sequencing (NGS) technology, which allows for the analysis of multiple genes at once.

Conclusion

SMALED2 is a rare form of SMA that primarily affects the lower extremities. It is caused by mutations in the BICD2 gene and can be diagnosed through genetic testing. If you or someone you know is experiencing symptoms of SMALED2, it is important to seek medical attention and consider genetic testing. DNA Labs India offers NGS Genetic DNA testing for SMALED2 at an affordable cost.

Contact DNA Labs India today to learn more about SMALED2 testing and to schedule an appointment.