PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 Genetic Test
Test Components
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test type: Dysmorphology
Doctor: Pediatrics
Test Department: Genetics
Pre Test 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
Test Details
PIGV gene hyperphosphatasia with mental retardation syndrome type 1 is a rare genetic disorder characterized by intellectual disability, developmental delay, and elevated levels of alkaline phosphatase in the blood. It is caused by mutations in the PIGV gene, which is involved in the production of glycosylphosphatidylinositol (GPI) anchors that attach proteins to the cell membrane.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. It allows for the detection of various genetic mutations, including those in the PIGV gene, in a more efficient and cost-effective manner compared to traditional sequencing methods.
NGS genetic testing for PIGV gene hyperphosphatasia with mental retardation syndrome type 1 can help confirm a diagnosis, provide information on the specific genetic mutation causing the disorder, and guide appropriate medical management and genetic counseling for affected individuals and their families.
Test Name | PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Dysmorphology |
Doctor | Pediatrics |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
PIGV gene hyperphosphatasia with mental retardation syndrome type 1 is a rare genetic disorder characterized by intellectual disability, developmental delay, and elevated levels of alkaline phosphatase in the blood. It is caused by mutations in the PIGV gene, which is involved in the production of glycosylphosphatidylinositol (GPI) anchors that attach proteins to the cell membrane. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. It allows for the detection of various genetic mutations, including those in the PIGV gene, in a more efficient and cost-effective manner compared to traditional sequencing methods. NGS genetic testing for PIGV gene hyperphosphatasia with mental retardation syndrome type 1 can help confirm a diagnosis, provide information on the specific genetic mutation causing the disorder, and guide appropriate medical management and genetic counseling for affected individuals and their families. |