Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSPB8 gene for Neuronopathy distal hereditary motor type 2A

PreTest Information

Clinical History of Patient who is going for HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSPB8 Gene Neuronopathy distal hereditary motor type 2A

Detail Description

HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Distal hereditary motor neuropathy (dHMN) is a group of rare inherited disorders that affect the motor neurons, which are the nerves that control movement. HSPB8 Gene Neuronopathy is a type of dHMN that is caused by mutations in the HSPB8 gene.

NGS Genetic DNA testing is a powerful tool that can be used to diagnose HSPB8 Gene Neuronopathy distal hereditary motor type 2A. This type of testing uses next-generation sequencing technology to analyze the patient's DNA and identify any mutations or variants in the HSPB8 gene.

Symptoms of HSPB8 Gene Neuronopathy distal hereditary motor type 2A

The symptoms of HSPB8 Gene Neuronopathy distal hereditary motor type 2A typically begin in early adulthood and progress slowly over time. The most common symptoms include:

• Weakness and atrophy in the hands and feet
• Muscle cramps and spasms
• Difficulty with fine motor tasks
• Fasciculations (involuntary muscle contractions)
• Loss of muscle tone and reflexes

As the disease progresses, the weakness and atrophy can spread to other parts of the body, including the arms, legs, and torso. In severe cases, patients may experience difficulty breathing or swallowing.

Diagnosis of HSPB8 Gene Neuronopathy distal hereditary motor type 2A

Diagnosing HSPB8 Gene Neuronopathy distal hereditary motor type 2A can be challenging, as the symptoms can be similar to those of other neurological disorders. A thorough medical history, physical examination, and neurological evaluation are typically the first steps in the diagnostic process.

NGS Genetic DNA testing can be used to confirm a diagnosis of HSPB8 Gene Neuronopathy distal hereditary motor type 2A. This type of testing can identify mutations or variants in the HSPB8 gene that are associated with the disorder.

Cost of HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic DNA Test

The cost of HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic DNA testing in India is typically around INR 20,000. This cost may vary depending on the laboratory or testing facility, as well as any additional fees or charges that may apply.

While the cost of testing may seem high, it is important to remember that a correct diagnosis can help patients and their families to better understand the condition and make informed decisions about treatment and management.

Conclusion

HSPB8 Gene Neuronopathy distal hereditary motor type 2A is a rare but debilitating condition that can cause weakness and atrophy in the hands and feet, as well as other parts of the body. NGS Genetic DNA testing is a valuable tool that can be used to diagnose the condition and identify any mutations or variants in the HSPB8 gene. While the cost of testing may be high, it is an important investment in the patient's health and wellbeing.

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 HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic DNA Test