Short Description

NGS genetic DNA test detecets for variant and mutation detection in TUBB4A gene for Leukodystrophy hypomyelinating type 6

PreTest Information

Clinical History of Patient who is going for TUBB4A Gene Leukodystrophy hypomyelinating type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TUBB4A Gene Leukodystrophy hypomyelinating type 6

Detail Description

TUBB4A Gene Leukodystrophy Hypomyelinating Type 6 NGS Genetic DNA Test Cost INR 20000 - Symptoms and Diagnosis

Leukodystrophies are a group of genetic disorders that affect the white matter of the brain. White matter is responsible for transmitting signals between different parts of the brain. Leukodystrophies are caused by mutations in genes that are involved in the production, maintenance, or breakdown of the myelin sheath, which is the fatty substance that surrounds and protects nerve fibers. One such gene is the TUBB4A gene, which is associated with hypomyelinating leukodystrophy type 6.

Symptoms of TUBB4A Gene Leukodystrophy Hypomyelinating Type 6

The symptoms of hypomyelinating leukodystrophy type 6 can vary depending on the severity of the disease and the age of onset. In general, symptoms begin in early childhood and may include:

• Delayed motor development
• Difficulty with coordination and balance
• Muscle weakness
• Seizures
• Intellectual disability
• Speech difficulties
• Vision problems

As the disease progresses, symptoms may become more severe and may include difficulty swallowing, respiratory problems, and paralysis.

Diagnosis of TUBB4A Gene Leukodystrophy Hypomyelinating Type 6

Diagnosis of hypomyelinating leukodystrophy type 6 is based on a combination of clinical symptoms and genetic testing. A doctor may perform a physical exam, neurological exam, and imaging tests such as an MRI to assess the extent of white matter damage. A genetic test can confirm the presence of a mutation in the TUBB4A gene.

NGS Genetic DNA Test Cost INR 20000

DNA Labs India offers NGS Genetic DNA testing for TUBB4A Gene Leukodystrophy Hypomyelinating Type 6 at a cost of INR 20000. This test uses next-generation sequencing technology to analyze the entire TUBB4A gene for mutations that may be associated with the disease. The test is non-invasive and can be performed using a simple blood sample.

NGS Genetic DNA testing can provide a definitive diagnosis of hypomyelinating leukodystrophy type 6, which can help guide treatment and management decisions. It can also provide important information for family planning and genetic counseling.

Conclusion

If you or a loved one are experiencing symptoms of hypomyelinating leukodystrophy type 6, it is important to seek medical attention and consider genetic testing. DNA Labs India offers NGS Genetic DNA testing for TUBB4A Gene Leukodystrophy Hypomyelinating Type 6 at an affordable cost of INR 20000. Early diagnosis and intervention can improve outcomes and quality of life for those affected by this rare genetic disorder.

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 TUBB4A Gene Leukodystrophy hypomyelinating type 6 NGS Genetic DNA Test