Short Description

NGS genetic DNA test detecets for variant and mutation detection in GARS1 gene for CMT2D

PreTest Information

Clinical History of Patient who is going for GARS1 Gene CMT2D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GARS1 Gene CMT2D

Detail Description

GARS1 Gene CMT2D NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, causing muscle weakness and atrophy in the arms, legs, hands, and feet. CMT2D is a subtype of CMT caused by mutations in the GARS1 gene. The GARS1 gene provides instructions for making an enzyme called glycyl-tRNA synthetase, which is essential for protein synthesis.

If you suspect that you or a loved one may have CMT2D, a genetic DNA test can confirm or rule out the diagnosis. Here's what you need to know about the symptoms, diagnosis, and cost of the GARS1 gene CMT2D NGS genetic DNA test in India.

Symptoms of CMT2D

CMT2D typically presents in adolescence or early adulthood, although it can occur at any age. The symptoms of CMT2D can vary from person to person, but they generally include:

• Muscle weakness and atrophy in the feet and lower legs
• Tingling or numbness in the hands and feet
• Difficulty with balance and coordination
• Foot drop
• High arches or flat feet
• Difficulty with fine motor skills, such as writing or buttoning clothes

Diagnosis of CMT2D

The diagnosis of CMT2D typically involves a combination of clinical evaluation, nerve conduction studies, electromyography, and genetic testing. A genetic DNA test can confirm the presence of a GARS1 gene mutation, which is the cause of CMT2D.

If you suspect that you or a loved one may have CMT2D, it's important to see a qualified healthcare provider for an accurate diagnosis and appropriate treatment plan.

Cost of GARS1 Gene CMT2D NGS Genetic DNA Test

The cost of the GARS1 gene CMT2D NGS genetic DNA test in India varies depending on the laboratory and location. However, you can expect to pay around INR 20,000 for the test.

It's important to note that some insurance plans may cover the cost of genetic DNA testing for CMT2D, so be sure to check with your provider before scheduling the test.

Conclusion

If you suspect that you or a loved one may have CMT2D, a genetic DNA test can provide a definitive diagnosis and help guide treatment options. The cost of the GARS1 gene CMT2D NGS genetic DNA test in India is around INR 20,000, but some insurance plans may cover the cost.

Remember, early diagnosis and treatment can help manage the symptoms of CMT2D and improve overall quality of life. If you have any concerns about your health or the health of a loved one, be sure to see a qualified healthcare provider for an accurate diagnosis and appropriate treatment plan.

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 GARS1 Gene CMT2D NGS Genetic DNA Test