PHGDH Gene Phosphoglycerate dehydrogenase deficiency Genetic Test
Components
Test Name: PHGDH Gene Phosphoglycerate dehydrogenase deficiency Genetic Test
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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for PHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoglycerate dehydrogenase deficiency
Test Details
Phosphoglycerate dehydrogenase (PHGDH) gene is responsible for encoding the enzyme phosphoglycerate dehydrogenase, which plays a crucial role in the serine biosynthesis pathway. Mutations in the PHGDH gene can lead to a rare genetic disorder called phosphoglycerate dehydrogenase deficiency.
Phosphoglycerate dehydrogenase deficiency is characterized by a deficiency of the phosphoglycerate dehydrogenase enzyme, which results in impaired serine biosynthesis. Serine is an essential amino acid that is required for various cellular processes, including the synthesis of proteins, nucleotides, and lipids.
Individuals with phosphoglycerate dehydrogenase deficiency may present with a range of symptoms, including intellectual disability, developmental delay, seizures, microcephaly (small head size), and neurological abnormalities. The severity of symptoms can vary among affected individuals.
NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool that can be used to identify mutations in the PHGDH gene. NGS allows for the simultaneous sequencing of multiple genes, making it a powerful tool for identifying genetic variations associated with various disorders.
NGS genetic testing for phosphoglycerate dehydrogenase deficiency involves analyzing the DNA of an individual to identify any mutations or variations in the PHGDH gene. This can help confirm a diagnosis of phosphoglycerate dehydrogenase deficiency and provide important information for genetic counseling and management of the condition.
Overall, NGS genetic testing for phosphoglycerate dehydrogenase deficiency can help in the identification and diagnosis of individuals with this rare genetic disorder, allowing for appropriate management and support.
| Test Name | PHGDH Gene Phosphoglycerate dehydrogenase deficiency 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoglycerate dehydrogenase deficiency |
| Test Details |
Phosphoglycerate dehydrogenase (PHGDH) gene is responsible for encoding the enzyme phosphoglycerate dehydrogenase, which plays a crucial role in the serine biosynthesis pathway. Mutations in the PHGDH gene can lead to a rare genetic disorder called phosphoglycerate dehydrogenase deficiency. Phosphoglycerate dehydrogenase deficiency is characterized by a deficiency of the phosphoglycerate dehydrogenase enzyme, which results in impaired serine biosynthesis. Serine is an essential amino acid that is required for various cellular processes, including the synthesis of proteins, nucleotides, and lipids. Individuals with phosphoglycerate dehydrogenase deficiency may present with a range of symptoms, including intellectual disability, developmental delay, seizures, microcephaly (small head size), and neurological abnormalities. The severity of symptoms can vary among affected individuals. NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool that can be used to identify mutations in the PHGDH gene. NGS allows for the simultaneous sequencing of multiple genes, making it a powerful tool for identifying genetic variations associated with various disorders. NGS genetic testing for phosphoglycerate dehydrogenase deficiency involves analyzing the DNA of an individual to identify any mutations or variations in the PHGDH gene. This can help confirm a diagnosis of phosphoglycerate dehydrogenase deficiency and provide important information for genetic counseling and management of the condition. Overall, NGS genetic testing for phosphoglycerate dehydrogenase deficiency can help in the identification and diagnosis of individuals with this rare genetic disorder, allowing for appropriate management and support. |
