Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLR3A gene for Leukodystrophy hypomyelinating type 7

PreTest Information

Clinical History of Patient who is going for POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLR3A Gene Leukodystrophy hypomyelinating type 7

Detail Description

POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic DNA Test

Leukodystrophies are a group of rare genetic disorders that affect the white matter of the brain. One of the types of leukodystrophies is hypomyelinating leukodystrophy, which is caused by the incomplete formation of the myelin sheath that surrounds nerve fibers in the brain. POLR3A Gene Leukodystrophy hypomyelinating type 7 is a specific type of hypomyelinating leukodystrophy that is caused by mutations in the POLR3A gene.

Symptoms

The symptoms of POLR3A Gene Leukodystrophy hypomyelinating type 7 can vary widely between individuals and depend on the severity of the disease. Some of the common symptoms include:

• Delayed development
• Weak muscle tone
• Difficulty walking
• Seizures
• Speech problems
• Vision problems

Diagnosis

Diagnosis of POLR3A Gene Leukodystrophy hypomyelinating type 7 involves a variety of tests, including:

• Genetic testing: A sample of DNA is analyzed to check for mutations in the POLR3A gene.
• MRI: Magnetic resonance imaging can show the characteristic changes in the white matter of the brain.
• Electroencephalogram (EEG): This test records the electrical activity of the brain and can detect abnormal patterns.

NGS Genetic DNA Test

DNA Labs India offers a next-generation sequencing (NGS) genetic DNA test for POLR3A Gene Leukodystrophy hypomyelinating type 7. This test analyzes the entire POLR3A gene to detect mutations that may be causing the disease. The test is performed using a blood or saliva sample and provides highly accurate results.

Cost

The cost of the POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic DNA Test offered by DNA Labs India is INR 20,000. This includes the cost of sample collection, testing, and analysis.

Conclusion

If you or a loved one is experiencing symptoms of POLR3A Gene Leukodystrophy hypomyelinating type 7, it is important to get a proper diagnosis as soon as possible. The NGS Genetic DNA Test offered by DNA Labs India can provide accurate results and help guide treatment decisions. Contact DNA Labs India today to learn more about this test and how it can help.

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 POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic DNA Test