Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSPB1 gene for Neuronopathy distal hereditary motor type 2B

PreTest Information

Clinical History of Patient who is going for HSPB1 Gene Neuronopathy distal hereditary motor type 2B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSPB1 Gene Neuronopathy distal hereditary motor type 2B

Detail Description

HSPB1 Gene Neuronopathy distal hereditary motor type 2B NGS Genetic DNA Test

Distal hereditary motor neuropathy (dHMN) is a group of rare inherited disorders characterized by the wasting and weakness of muscles in the distal parts of the limbs. The HSPB1 gene neuronopathy is a subtype of dHMN caused by mutations in the HSPB1 gene. This disorder is also known as distal hereditary motor neuropathy type 2B (dHMN2B).

The HSPB1 gene provides instructions for making a protein called heat shock protein beta-1 (HSPB1), which is involved in protecting cells from stress and damage. Mutations in this gene can lead to the production of a defective protein that is unable to perform its normal protective functions. This can result in the degeneration of motor neurons, leading to muscle weakness and wasting.

Symptoms of HSPB1 Gene Neuronopathy

The symptoms of HSPB1 gene neuronopathy usually begin in adulthood, typically in the third to fifth decade of life. The disorder is characterized by weakness and wasting of the muscles in the distal parts of the limbs, such as the hands, feet, lower legs, and forearms. The weakness and wasting usually begin in the feet and legs and then progress to the hands and arms over time. Other symptoms may include:

• Difficulty walking
• Foot drop
• Hand weakness
• Fasciculations (muscle twitching)
• Loss of reflexes
• Difficulty with fine motor tasks

Diagnosis of HSPB1 Gene Neuronopathy

The diagnosis of HSPB1 gene neuronopathy is usually based on clinical features, family history, and genetic testing. A neurologist may perform a physical examination to evaluate muscle strength, reflexes, and sensation. Genetic testing can confirm the diagnosis by identifying mutations in the HSPB1 gene. Next-generation sequencing (NGS) is a type of genetic testing that can sequence multiple genes at once, making it a more efficient and cost-effective option.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for HSPB1 gene neuronopathy in India is approximately INR 20,000. This cost may vary depending on the specific testing laboratory and any additional services that may be required.

Conclusion

HSPB1 gene neuronopathy is a rare subtype of distal hereditary motor neuropathy caused by mutations in the HSPB1 gene. The disorder is characterized by weakness and wasting of the muscles in the distal parts of the limbs, typically beginning in adulthood. Diagnosis is usually based on clinical features and genetic testing, such as NGS. The cost of an NGS genetic DNA test for HSPB1 gene neuronopathy in India is approximately INR 20,000.

If you suspect that you or a family member may have HSPB1 gene neuronopathy, it is important to seek medical attention and speak with a genetic counselor. Early diagnosis and treatment can help manage symptoms and improve quality of life.

For more information on genetic testing and counseling services, contact DNA Labs India.