Short Description

NGS genetic DNA test detecets for variant and mutation detection in PGAP2 gene for Hyperphosphatasia with mental retardation syndrome type 3

PreTest Information

Clinical History of Patient who is going for PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic DNA Test gene PGAP2

Detail Description

PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 (PGAP2-HPMRS3) 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 PGAP2 gene, which provides instructions for making a protein that is essential for normal brain development.

Symptoms of PGAP2-HPMRS3

The symptoms of PGAP2-HPMRS3 can vary widely from person to person. Some common symptoms include:

• Mental retardation
• Delayed speech development
• Seizures
• Abnormal muscle tone
• Facial dysmorphism
• Short stature
• Delayed growth

Diagnosis of PGAP2-HPMRS3

Diagnosing PGAP2-HPMRS3 can be difficult because it is a rare disorder and its symptoms can be similar to other conditions. A doctor will perform a physical examination and ask about the patient's medical history and family history. They may also order genetic testing to confirm the diagnosis.

NGS Genetic DNA Test Cost INR:20000

The NGS Genetic DNA Test for PGAP2-HPMRS3 costs INR:20000 in DNA Labs India. This test uses next-generation sequencing (NGS) technology to analyze the patient's DNA and identify mutations in the PGAP2 gene. The test is non-invasive and requires only a small blood sample.

Conclusion

PGAP2 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 3 is a rare genetic disorder that can have serious effects on a person's development. Early diagnosis and treatment can help manage the symptoms and improve the patient's quality of life. If you suspect that you or someone you know may have PGAP2-HPMRS3, talk to a doctor about genetic testing.