Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLR3B gene for Leukodystrophy hypomyelinating type 8

PreTest Information

Clinical History of Patient who is going for POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLR3B Gene Leukodystrophy hypomyelinating type 8

Detail Description

POLR3B Gene Leukodystrophy Hypomyelinating Type 8 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Leukodystrophies are a group of genetic disorders that affect the myelin, the protective covering of nerve fibers in the central nervous system. One of the rarest forms of leukodystrophy is hypomyelinating leukodystrophy type 8, which is caused by mutations in the POLR3B gene. DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for the POLR3B gene at a cost of INR 20,000.

Symptoms of Hypomyelinating Leukodystrophy Type 8

The symptoms of hypomyelinating leukodystrophy type 8 usually appear in infancy or early childhood. They may include:

• Developmental delay
• Abnormal muscle tone (either too stiff or too floppy)
• Difficulty with coordination and balance
• Seizures
• Visual and hearing impairment

The severity of symptoms can vary widely, even among individuals with the same genetic mutation.

Diagnosing Hypomyelinating Leukodystrophy Type 8

Diagnosing hypomyelinating leukodystrophy type 8 involves a combination of clinical evaluation, imaging studies, and genetic testing. Magnetic resonance imaging (MRI) can reveal abnormalities in the white matter of the brain, which is a hallmark of leukodystrophies. Genetic testing can confirm the diagnosis and identify the specific genetic mutation responsible for the disease.

The Importance of Genetic Testing

Genetic testing is essential for accurate diagnosis of hypomyelinating leukodystrophy type 8. It can also provide important information for family members who may be at risk for the disease. If a genetic mutation is identified, family members can undergo testing to determine if they carry the mutation and may be at risk for passing it on to their children.

The POLR3B Gene NGS Genetic DNA Test

DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for the POLR3B gene, which is the gene responsible for hypomyelinating leukodystrophy type 8. The test costs INR 20,000 and involves sequencing the entire coding region of the POLR3B gene to identify any mutations. The test is performed using a blood sample and typically takes 2-3 weeks for results to be available.

Conclusion

Hypomyelinating leukodystrophy type 8 is a rare genetic disorder that can cause developmental delays, seizures, and other neurological symptoms. Genetic testing is essential for accurate diagnosis and can provide important information for family members. DNA Labs India offers a NGS genetic DNA test for the POLR3B gene at a cost of INR 20,000. If you or a loved one is experiencing symptoms of hypomyelinating leukodystrophy type 8, talk to your doctor about genetic testing.

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

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 POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic DNA Test