Short Description

NGS genetic DNA test detecets for variant and mutation detection in AIMP1 gene for Leukodystrophy hypomyelinating type 3

PreTest Information

Clinical History of Patient who is going for AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AIMP1 Gene Leukodystrophy hypomyelinating type 3

Detail Description

AIMP1 Gene Leukodystrophy Hypomyelinating Type 3 NGS Genetic DNA Test

Leukodystrophy is a rare genetic disorder that affects the white matter of the brain. Hypomyelinating type 3 is one of the subtypes of leukodystrophy that is caused by a mutation in the AIMP1 gene. This gene provides instructions for making a protein that is essential for the development and maintenance of myelin, the protective covering that surrounds nerve fibers in the brain and spinal cord. When this gene is mutated, the myelin does not form properly, resulting in neurological symptoms.

Symptoms of AIMP1 Gene Leukodystrophy Hypomyelinating Type 3

The symptoms of hypomyelinating type 3 can vary depending on the severity of the condition. Some common symptoms include:

• Developmental delays
• Delayed motor skills
• Weakness in the arms and legs
• Difficulty walking
• Seizures
• Vision problems

These symptoms typically appear in infancy or early childhood and progressively worsen over time. In some cases, the symptoms may stabilize or even improve in adulthood.

Diagnosis of AIMP1 Gene Leukodystrophy Hypomyelinating Type 3

Diagnosing hypomyelinating type 3 can be difficult because the symptoms are similar to other neurological conditions. A genetic test is required to confirm the diagnosis. The AIMP1 gene NGS genetic DNA test is a highly accurate and reliable test that can detect mutations in the AIMP1 gene. This test can be performed on a blood or saliva sample and typically takes 2-3 weeks for results to be available.

Cost of AIMP1 Gene Leukodystrophy Hypomyelinating Type 3 NGS Genetic DNA Test

The cost of the AIMP1 gene NGS genetic DNA test for hypomyelinating type 3 is INR 20,000. This test is not covered by insurance, so patients will need to pay for it out of pocket.

Conclusion

AIMP1 gene leukodystrophy hypomyelinating type 3 is a rare genetic disorder that affects the white matter of the brain. Early diagnosis is important for patients to receive appropriate treatment and management of symptoms. The AIMP1 gene NGS genetic DNA test is a reliable and accurate test that can confirm the diagnosis of hypomyelinating type 3. The cost of this test is INR 20,000 and is not covered by insurance.

At DNA Labs India, we offer a wide range of genetic tests, including the AIMP1 gene NGS genetic DNA test for hypomyelinating type 3. Our team of experienced and qualified genetic counselors can provide guidance and support throughout the testing process. Contact us today to learn more about our services.