Short Description

NGS genetic DNA test detecets for variant and mutation detection in PGAP3 gene for Hyperphosphatasia with mental retardation syndrome type 4

PreTest Information

Clinical History of Patient who is going for PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 NGS Genetic DNA Test gene PGAP3

Detail Description

PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 (PGAP3-HPMRS4) is a rare genetic disorder that affects the nervous system and causes intellectual disability. It is caused by mutations in the PGAP3 gene, which is responsible for producing a protein that plays a role in the formation of the cell membrane. This syndrome is also known as Mabry syndrome or hyperphosphatasia with mental retardation syndrome (HPMRS).

Symptoms of PGAP3-HPMRS4

PGAP3-HPMRS4 is characterized by intellectual disability, delayed speech and motor development, seizures, and abnormal muscle tone. Patients with this syndrome may also have distinctive facial features, such as a small head circumference, a small jaw, and a prominent forehead. In addition, they may have skeletal abnormalities, including joint stiffness, scoliosis, and abnormal bone growth. Some patients may also have liver and kidney problems.

Diagnosis of PGAP3-HPMRS4

Diagnosis of PGAP3-HPMRS4 is based on the patient's clinical features, family history, and genetic testing. A thorough physical examination, including neurological and skeletal assessments, is essential. Doctors may also perform brain imaging studies, such as an MRI or CT scan, to assess brain structure and function. Genetic testing, including Next-Generation Sequencing (NGS) DNA testing, can confirm the diagnosis by identifying mutations in the PGAP3 gene.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India can vary depending on the laboratory and the specific test ordered. The cost of PGAP3-HPMRS4 testing using NGS technology is approximately INR 20,000. However, this cost may vary based on the laboratory's location, quality of testing, and other factors. Patients should consult with their healthcare provider or a genetic counselor to determine the most appropriate testing options and associated costs.

Conclusion

PGAP3-HPMRS4 is a rare genetic disorder that can cause significant intellectual disability and physical impairments. Early diagnosis through a combination of clinical evaluation and genetic testing is essential for proper management and treatment. NGS genetic DNA testing is an effective tool for identifying mutations in the PGAP3 gene and confirming a diagnosis of PGAP3-HPMRS4. Patients and their families should consult with a healthcare provider or genetic counselor to discuss testing options and associated costs.

If you are looking for a reliable and accurate DNA testing laboratory in India, DNA Labs India can help. We offer a range of genetic testing services, including NGS DNA testing for PGAP3-HPMRS4. Contact us today to learn more about our services and how we can assist you.