Short Description

NGS genetic DNA test detecets for variant and mutation detection in YARS1 gene for DI-CMTC

PreTest Information

Clinical History of Patient who is going for YARS1 Gene DI-CMTC NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with YARS1 Gene DI-CMTC

Detail Description

YARS1 Gene DI-CMTC NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

DNA Labs India is a leading DNA testing laboratory that offers a wide range of genetic tests, including the YARS1 Gene DI-CMTC NGS Genetic DNA Test. This test is designed to identify variations in the YARS1 gene that can cause DI-CMTC, a rare genetic disorder that affects the peripheral nerves. Here's everything you need to know about the YARS1 Gene DI-CMTC NGS Genetic DNA Test, including its cost, symptoms, and diagnosis.

What is DI-CMTC?

DI-CMTC stands for Dominant Intermediate Charcot-Marie-Tooth disease, which is a hereditary motor and sensory neuropathy. This rare genetic disorder affects the peripheral nerves, which are the nerves that connect the brain and spinal cord to the muscles and sensory organs throughout the body. DI-CMTC can cause muscle weakness, sensory loss, and other neurological symptoms.

What is the YARS1 Gene?

The YARS1 gene is located on chromosome 1 and provides instructions for making an enzyme called tyrosyl-tRNA synthetase. This enzyme is involved in the process of protein synthesis, which is the process by which cells make proteins. Variations in the YARS1 gene can disrupt the normal function of tyrosyl-tRNA synthetase, which can lead to the development of DI-CMTC.

What is the YARS1 Gene DI-CMTC NGS Genetic DNA Test?

The YARS1 Gene DI-CMTC NGS Genetic DNA Test is a genetic test that uses next-generation sequencing (NGS) technology to analyze the YARS1 gene. This test can detect variations in the YARS1 gene that are associated with DI-CMTC. The test is performed on a DNA sample, which can be obtained from a blood sample or a cheek swab.

What are the Symptoms of DI-CMTC?

The symptoms of DI-CMTC can vary from person to person, but they typically include muscle weakness, sensory loss, and other neurological symptoms. The muscle weakness may affect the muscles in the hands, feet, and lower legs, and can make it difficult to walk, run, or perform other activities that require strength and coordination. The sensory loss may cause numbness, tingling, or other abnormal sensations in the hands, feet, and lower legs. Other neurological symptoms may include muscle spasms, cramps, and twitching.

How is DI-CMTC Diagnosed?

DI-CMTC is typically diagnosed through a combination of clinical examination, electrophysiological testing, and genetic testing. The clinical examination may include tests of muscle strength, coordination, and sensation. Electrophysiological testing may include nerve conduction studies and electromyography, which can help to assess the function of the peripheral nerves and muscles. Genetic testing, such as the YARS1 Gene DI-CMTC NGS Genetic DNA Test, can confirm the diagnosis by identifying variations in the YARS1 gene that are associated with DI-CMTC.

What is the Cost of the YARS1 Gene DI-CMTC NGS Genetic DNA Test?

The cost of the YARS1 Gene DI-CMTC NGS Genetic DNA Test at DNA Labs India is INR 20000. This cost includes the DNA sample collection kit, the laboratory analysis, and the report. The test can be ordered online, and the DNA sample can be collected at home or at a nearby clinic.

Conclusion

The YARS1 Gene DI-CMTC NGS Genetic DNA Test is a valuable tool for diagnosing DI-CMTC, a rare genetic disorder that affects the peripheral nerves. This test can identify variations in the YARS1 gene that are associated with DI-CMTC, and can help to confirm the diagnosis. If you or a loved one is experiencing symptoms of DI-CMTC, talk to your doctor about whether genetic testing may be appropriate, and consider ordering the YARS1 Gene DI-CMTC NGS Genetic DNA Test from DNA Labs India.

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 YARS1 Gene DI-CMTC NGS Genetic DNA Test