Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJB1 gene for CMTX1

PreTest Information

Clinical History of Patient who is going for GJB1 Gene CMTX1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GJB1 Gene CMTX1

Detail Description

GJB1 Gene CMTX1 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that affect the peripheral nerves. CMTX1 is a subtype of CMT that is caused by mutations in the GJB1 gene. This gene provides instructions for making a protein called connexin 32, which is essential for the normal functioning of peripheral nerves.

NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. The GJB1 gene CMTX1 NGS genetic DNA test is a diagnostic tool that uses NGS to identify mutations in the GJB1 gene.

Symptoms of CMTX1

CMTX1 is characterized by a progressive loss of muscle tissue and weakness in the hands, feet, and lower legs. Other symptoms may include:

• Numbness and tingling in the limbs
• Difficulty walking
• Foot deformities
• Loss of balance
• Difficulty with fine motor skills, such as writing or buttoning clothes

The severity of CMTX1 symptoms can vary widely, even among members of the same family who share the same genetic mutation.

Diagnosis of CMTX1

If CMTX1 is suspected, a GJB1 gene CMTX1 NGS genetic DNA test can be performed to confirm the diagnosis. This test can detect mutations in the GJB1 gene with high accuracy.

The test is typically done on a blood sample, which is sent to a laboratory for analysis. Results are usually available within a few weeks.

Cost of GJB1 Gene CMTX1 NGS Genetic DNA Test in India

The cost of the GJB1 gene CMTX1 NGS genetic DNA test in India can vary depending on the laboratory performing the test. On average, the cost of the test is around INR 20,000.

It is important to note that this cost may not include additional fees, such as consultation fees or sample collection fees. It is recommended to confirm the total cost of the test with the laboratory before proceeding with the test.

Conclusion

The GJB1 gene CMTX1 NGS genetic DNA test is a valuable diagnostic tool for individuals suspected of having CMTX1. The test can accurately detect mutations in the GJB1 gene, allowing for early diagnosis and appropriate treatment.

The cost of the test may vary, but it is a worthwhile investment in the long-term management of CMTX1. If you or a loved one are experiencing symptoms of CMTX1, it is recommended to speak with a healthcare professional about the possibility of undergoing the GJB1 gene CMTX1 NGS genetic DNA test.

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 GJB1 Gene CMTX1 NGS Genetic DNA Test