Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIGW gene for Hyperphosphatasia with mental retardation syndrome type 5

PreTest Information

Clinical History of Patient who is going for PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic DNA Test gene PIGW

Detail Description

PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 (MRT5) is a rare genetic disorder that affects the development of the brain and causes intellectual disability. It is caused by mutations in the PIGW gene, which provides instructions for making a protein that is essential for the production of glycosylphosphatidylinositol (GPI) anchors. GPI anchors are molecules that attach many proteins to the surface of cells, including those in the brain.

Symptoms of PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5

The symptoms of MRT5 can vary, but most people with the condition have intellectual disability that ranges from moderate to severe. Other common symptoms include:

• Delayed speech and language development
• Delayed motor development
• Behavioral problems
• Seizures
• Abnormal muscle tone
• Facial dysmorphism
• Abnormal skull shape

Diagnosis of PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5

Diagnosis of MRT5 is typically made through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most effective method for identifying mutations in the PIGW gene. This test can be performed on a blood sample or a sample of saliva. It is important to consult with a genetic counselor or geneticist to discuss the benefits and risks of genetic testing before undergoing the procedure.

Cost of PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test

The cost of the NGS genetic DNA test for MRT5 varies depending on the laboratory that performs the test. At DNA Labs India, the cost of the test is INR 20,000. This includes the cost of sample collection, processing, and analysis. Insurance coverage for genetic testing can vary, so it is important to check with your insurance provider to determine if the test is covered.

Conclusion

PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 is a rare genetic disorder that affects the development of the brain and causes intellectual disability. Genetic testing, specifically NGS genetic DNA testing, is the most effective way to diagnose this condition. The cost of the test at DNA Labs India is INR 20,000. If you or a loved one is experiencing symptoms of MRT5, it is important to consult with a genetic counselor or geneticist to discuss the benefits and risks of genetic testing.

For more information on genetic testing and DNA analysis, please contact DNA Labs India.