PSPH Gene Phosphoserine phosphatase deficiency Genetic Test
Test Name: PSPH Gene Phosphoserine phosphatase deficiency Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoserine phosphatase deficiency
Test Details
PSPH gene phosphoserine phosphatase deficiency is a rare genetic disorder characterized by the lack of an enzyme called phosphoserine phosphatase. This enzyme is involved in the breakdown of an amino acid called serine.
Individuals with PSPH gene phosphoserine phosphatase deficiency have elevated levels of serine in their blood and urine, which can lead to a variety of symptoms including developmental delay, intellectual disability, seizures, and movement disorders.
NGS (Next-Generation Sequencing) genetic testing can be used to diagnose PSPH gene phosphoserine phosphatase deficiency. This type of testing involves sequencing the DNA of an individual to identify any mutations or changes in the PSPH gene that may be causing the disorder.
NGS genetic testing can provide a definitive diagnosis for individuals with suspected PSPH gene phosphoserine phosphatase deficiency, allowing for appropriate management and treatment options to be pursued. It can also be used for carrier testing and prenatal diagnosis in families with a known PSPH gene mutation.
| Test Name | PSPH Gene Phosphoserine phosphatase 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 PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoserine phosphatase deficiency |
| Test Details |
PSPH gene phosphoserine phosphatase deficiency is a rare genetic disorder characterized by the lack of an enzyme called phosphoserine phosphatase. This enzyme is involved in the breakdown of an amino acid called serine. Individuals with PSPH gene phosphoserine phosphatase deficiency have elevated levels of serine in their blood and urine, which can lead to a variety of symptoms including developmental delay, intellectual disability, seizures, and movement disorders. NGS (Next-Generation Sequencing) genetic testing can be used to diagnose PSPH gene phosphoserine phosphatase deficiency. This type of testing involves sequencing the DNA of an individual to identify any mutations or changes in the PSPH gene that may be causing the disorder. NGS genetic testing can provide a definitive diagnosis for individuals with suspected PSPH gene phosphoserine phosphatase deficiency, allowing for appropriate management and treatment options to be pursued. It can also be used for carrier testing and prenatal diagnosis in families with a known PSPH gene mutation. |
