Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIGV gene for Hyperphosphatasia with mental retardation syndrome type 1

PreTest Information

Clinical History of Patient who is going for PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 NGS Genetic DNA Test gene PIGV

Detail Description

PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 (PGAP1) is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by mutations in the PIGV gene, which provides instructions for making a protein that is essential for the production of glycosylphosphatidylinositol (GPI) anchors. GPI anchors are necessary for the attachment of certain proteins to the cell surface, and their absence leads to a range of symptoms.

Symptoms of PGAP1

The symptoms of PGAP1 can vary widely from person to person, even within the same family. However, some common features include:

• Mental retardation or intellectual disability
• Seizures
• Low muscle tone (hypotonia)
• Distinctive facial features
• Abnormal bone development
• Hyperphosphatasia (elevated levels of alkaline phosphatase in the blood)

Other symptoms may include hearing loss, vision problems, and abnormalities in the heart, kidneys, or liver.

Diagnosis of PGAP1

Diagnosis of PGAP1 is typically based on a combination of clinical features and genetic testing. If a doctor suspects PGAP1 based on a patient's symptoms, they may order blood tests to measure alkaline phosphatase levels and evaluate liver function. Imaging studies such as X-rays or MRI scans may also be used to look for bone abnormalities or other structural defects.

The definitive diagnosis of PGAP1 requires genetic testing to identify mutations in the PIGV gene. This can be done using a variety of methods, but next-generation sequencing (NGS) is becoming increasingly popular due to its speed and accuracy. NGS allows for the simultaneous analysis of multiple genes, making it a valuable tool for diagnosing rare genetic disorders like PGAP1.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for PGAP1 can vary depending on the specific test and the provider. However, at DNA Labs India, the cost of an NGS genetic DNA test for PGAP1 is INR 20,000. This test includes the sequencing of the entire PIGV gene, as well as other genes that may be associated with similar symptoms.

It is important to note that genetic testing may not be covered by insurance, and out-of-pocket costs can be significant. However, the information gained from genetic testing can be invaluable for both diagnosis and treatment, as well as for family planning and genetic counseling.

Conclusion

PGAP1 is a rare genetic disorder that can cause a range of physical and intellectual disabilities. Diagnosis typically involves a combination of clinical evaluation and genetic testing, with next-generation sequencing becoming an increasingly popular tool. At DNA Labs India, the cost of an NGS genetic DNA test for PGAP1 is INR 20,000. While genetic testing may not be covered by insurance, it can provide valuable information for both patients and their families.