Short Description

NGS genetic DNA test detecets for variant and mutation detection in NTRK1 gene for HSAN4

PreTest Information

Clinical History of Patient who is going for NTRK1 Gene HSAN4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NTRK1 Gene HSAN4

Detail Description

NTRK1 Gene HSAN4 NGS Genetic DNA Test

Hereditary sensory and autonomic neuropathy type IV (HSAN4) is a rare genetic disorder that affects the sensory nerves and autonomic nervous system. It is caused by mutations in the NTRK1 gene that provides instructions for making a protein called TrkA. This protein is essential for the development and survival of sensory neurons.

HSAN4 is inherited in an autosomal recessive pattern, which means a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Symptoms of HSAN4 usually appear in infancy or early childhood and can include:

• Lack of pain and temperature sensation in the feet and hands
• Loss of sensation in the arms and legs
• Difficulty with balance and coordination
• Slow growth and development
• Abnormal curvature of the spine

If left untreated, HSAN4 can lead to serious complications such as skin ulcers, joint deformities, and infections. Diagnosis of HSAN4 is typically made through a combination of clinical evaluation, nerve conduction studies, and genetic testing.

DNA Labs India offers NTRK1 Gene HSAN4 NGS Genetic DNA Test at a cost of INR 20000. This test uses next-generation sequencing (NGS) technology to identify mutations in the NTRK1 gene. Results of the test can help confirm a diagnosis of HSAN4 and guide treatment decisions.

Treatment of HSAN4 is focused on managing symptoms and preventing complications. This may include medications to relieve pain, physical therapy to improve balance and coordination, and surgery to correct spinal deformities. Early diagnosis and treatment can help improve outcomes for individuals with HSAN4.

If you or a loved one are experiencing symptoms of HSAN4, it is important to seek medical attention and consider genetic testing. DNA Labs India is dedicated to providing accurate and reliable genetic testing services to individuals and families affected by rare genetic disorders like HSAN4.

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 NTRK1 Gene HSAN4 NGS Genetic DNA Test