Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTDP1 gene for CMT4, CTDP1 related

PreTest Information

Clinical History of Patient who is going for CTDP1 Gene CMT4, CTDP1 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CTDP1 Gene CMT4, CTDP1 related

Detail Description

CTDP1 Gene and CMT4: Symptoms, Diagnosis, and Genetic DNA Test Cost

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, causing muscle weakness and wasting in the legs, feet, arms, and hands. CMT4 is a rare subtype of CMT that is caused by mutations in the CTDP1 gene.

Symptoms of CMT4

The symptoms of CMT4 usually appear in childhood or adolescence and include:

• Weakness in the legs, feet, arms, and hands
• Numbness or tingling in the hands and feet
• Foot drop (difficulty lifting the front part of the foot)
• High arches or flat feet
• Hammertoes (toes that curl downward)
• Loss of muscle mass in the legs and feet
• Difficulty with fine motor skills, such as writing or buttoning clothes

Diagnosis of CMT4

CMT4 is diagnosed through a combination of physical examination, nerve conduction studies, and genetic testing. The nerve conduction studies measure the speed of nerve impulses in the arms and legs. Genetic testing can identify mutations in the CTDP1 gene that cause CMT4.

CTDP1 Related NGS Genetic DNA Test

The CTDP1 related NGS Genetic DNA Test is a type of genetic testing that looks for mutations in the CTDP1 gene. This test can confirm a diagnosis of CMT4 and help identify carriers of the mutation who may be at risk of passing it on to their children.

Cost of CTDP1 Related NGS Genetic DNA Test in India

The cost of the CTDP1 related NGS Genetic DNA Test in India is around INR 20,000. This cost may vary depending on the laboratory or healthcare provider offering the test.

Conclusion

CMT4 is a rare subtype of Charcot-Marie-Tooth disease that is caused by mutations in the CTDP1 gene. Symptoms include weakness, numbness, and difficulty with fine motor skills. Diagnosis is made through physical examination, nerve conduction studies, and genetic testing. The CTDP1 related NGS Genetic DNA Test can confirm a diagnosis of CMT4 and identify carriers of the mutation. The cost of the test in India is around INR 20,000.

It is important to note that genetic testing and diagnosis should always be done under the supervision of a qualified healthcare provider. If you or someone you know is experiencing symptoms of CMT4, please seek medical attention.

For more information on genetic testing and diagnosis, visit DNA Labs India.