Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIF1B gene for CMT2A1

PreTest Information

Clinical History of Patient who is going for KIF1B Gene CMT2A1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1B Gene CMT2A1

Detail Description

KIF1B Gene CMT2A1 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy that affects the peripheral nerves. CMT2A1 is a subtype of CMT caused by mutations in the KIF1B gene. This gene provides instructions to make a protein that is essential for the proper functioning of nerve cells.

If you or someone you know has been diagnosed with CMT2A1 or is experiencing symptoms such as muscle weakness, numbness, or tingling in the feet and hands, it is important to consider genetic testing to confirm the diagnosis and guide treatment options.

What is a KIF1B Gene CMT2A1 NGS Genetic DNA Test?

A KIF1B Gene CMT2A1 NGS Genetic DNA Test is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the KIF1B gene. This test can detect mutations in the gene that may be causing CMT2A1.

The test involves taking a small sample of blood or saliva and analyzing the DNA in the sample. The cost of the test is INR 20000.

What are the symptoms of CMT2A1?

The symptoms of CMT2A1 can vary in severity and may include:

• Muscle weakness in the feet and hands
• Numbness or tingling in the feet and hands
• Difficulty with balance and coordination
• Foot deformities such as high arches or hammertoes
• Weakness in the muscles that control the ankles and wrists
• Difficulty with fine motor skills such as writing or buttoning clothes

These symptoms may develop slowly over time and can worsen with age.

How is CMT2A1 diagnosed?

CMT2A1 is typically diagnosed through a combination of clinical evaluation, nerve conduction studies, and genetic testing. A neurologist or other healthcare professional may perform a physical examination to look for signs of muscle weakness or atrophy, as well as evaluate reflexes and sensory function.

Nerve conduction studies may be used to measure the speed and strength of nerve impulses in the arms and legs. Genetic testing can confirm a diagnosis of CMT2A1 by detecting mutations in the KIF1B gene.

Conclusion

If you or someone you know has been diagnosed with CMT2A1 or is experiencing symptoms of the condition, it is important to consider genetic testing to confirm the diagnosis and guide treatment options. The KIF1B Gene CMT2A1 NGS Genetic DNA Test is a valuable tool for identifying mutations in the KIF1B gene that may be causing CMT2A1. The cost of the test is INR 20000.

At DNA Labs India, we offer a range of genetic testing services, including the KIF1B Gene CMT2A1 NGS Genetic DNA Test. Our team of experienced geneticists and healthcare professionals can provide guidance and support throughout the testing process. Contact us today to learn more.

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 KIF1B Gene CMT2A1 NGS Genetic DNA Test