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PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to detect mutations in the PIGV gene, which are linked to Hyperphosphatasia with Mental Retardation Syndrome Type 1 (HPMRS1). HPMRS1, also known as Mabry Syndrome, is a rare genetic disorder characterized by elevated levels of alkaline phosphatase, intellectual disability, distinct facial features, and, in some cases, seizures. The test plays a crucial role in the early diagnosis and management of the condition, providing essential information for genetic counseling and guiding treatment options. Priced at 4400 AED, the test is conducted using advanced genetic sequencing technologies to ensure accurate and reliable results. DNA Labs UAE, with its state-of-the-art facilities and expert team, ensures that individuals undergoing this test receive comprehensive support throughout the diagnostic process.

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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.