Short Description

NGS genetic DNA test detecets for variant and mutation detection in FAM126A gene for Leukodystrophy hypomyelinating type 5

PreTest Information

Clinical History of Patient who is going for FAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FAM126A Gene Leukodystrophy hypomyelinating type 5

Detail Description

FAM126A Gene Leukodystrophy Hypomyelinating Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Leukodystrophies are a group of genetic disorders that affect the white matter of the brain and spinal cord. Hypomyelinating leukodystrophies are a subgroup that causes insufficient myelin formation or maintenance. FAM126A gene Leukodystrophy hypomyelinating type 5 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the FAM126A gene, which provides instructions for making a protein that is essential for the formation and maintenance of myelin.

Symptoms of FAM126A Gene Leukodystrophy Hypomyelinating Type 5

The symptoms of FAM126A gene Leukodystrophy hypomyelinating type 5 can vary from person to person and may include:

• Delayed development
• Intellectual disability
• Muscle weakness
• Abnormal muscle tone
• Seizures
• Difficulty walking
• Balance problems
• Speech difficulties
• Vision problems
• Hearing loss

Diagnosis of FAM126A Gene Leukodystrophy Hypomyelinating Type 5

Diagnosis of FAM126A gene Leukodystrophy hypomyelinating type 5 involves a combination of clinical evaluation, genetic testing, and imaging studies. A neurological examination is done to assess the individual's motor function, speech, and cognitive abilities. MRI scans of the brain and spinal cord may show abnormalities in the white matter. Genetic testing can confirm the diagnosis by identifying mutations in the FAM126A gene.

NGS Genetic DNA Test Cost INR:20000

The cost of the NGS Genetic DNA Test for FAM126A gene Leukodystrophy hypomyelinating type 5 is INR:20000. This test uses Next-Generation Sequencing (NGS) technology to analyze the DNA sequence of the FAM126A gene and identify any mutations that may be causing the disorder. The test can be done on a blood or saliva sample and is usually covered by insurance.

Conclusion

FAM126A gene Leukodystrophy hypomyelinating type 5 is a rare genetic disorder that affects the nervous system. It can cause a range of symptoms, including delayed development, intellectual disability, muscle weakness, seizures, and vision problems. Diagnosis involves a combination of clinical evaluation, genetic testing, and imaging studies. The NGS Genetic DNA Test for FAM126A gene Leukodystrophy hypomyelinating type 5 costs INR:20000 and can confirm the diagnosis by identifying mutations in the FAM126A gene. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for individuals with this disorder.

If you suspect that you or a loved one may have FAM126A gene Leukodystrophy hypomyelinating type 5, speak to your doctor about genetic testing and other diagnostic options.

For more information on genetic testing and other DNA-related services, contact DNA Labs India.