Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIGO gene for Hyperphosphatasia with mental retardation syndrome type 2

PreTest Information

Clinical History of Patient who is going for PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic DNA Test gene PIGO

Detail Description

PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 NGS Genetic DNA Test

PIGO gene hyperphosphatasia with mental retardation syndrome type 2 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 PIGO gene, which provides instructions for making a protein that is essential for the production of glycosylphosphatidylinositol (GPI) anchors. GPI anchors are molecules that attach proteins to the cell membrane and are important for normal development and function of the nervous system and other organs.

Symptoms of PIGO gene hyperphosphatasia with mental retardation syndrome type 2 may include:

• Intellectual disability
• Delayed speech and language development
• Seizures
• Abnormal muscle tone
• Facial dysmorphism (unusual facial features)
• Abnormalities of the eyes, including small eyes (microphthalmia), cataracts, and glaucoma
• Abnormalities of the skeleton and joints
• Increased levels of alkaline phosphatase in the blood

Diagnosis of PIGO gene hyperphosphatasia with mental retardation syndrome type 2 can be confirmed through genetic testing, such as NGS (next-generation sequencing) DNA testing. This test analyzes the PIGO gene for mutations that are known to cause the disorder. NGS DNA testing is a highly accurate and reliable method of genetic testing that can detect even small changes in DNA.

DNA Labs India offers PIGO gene hyperphosphatasia with mental retardation syndrome type 2 NGS genetic DNA testing at a cost of INR 20,000. This test can provide a definitive diagnosis of the disorder, which can help guide treatment and management options. It may also be useful for family members of affected individuals who may be at risk of inheriting the disorder.

If you or someone you know is experiencing symptoms of PIGO gene hyperphosphatasia with mental retardation syndrome type 2, it is important to speak with a healthcare professional. DNA Labs India can provide genetic testing services to help diagnose and manage genetic disorders.

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 PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic DNA Test