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PSPH Gene Phosphoserine Phosphatase Deficiency Genetic Test Cost

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

-21%

The PSPH gene phosphoserine phosphatase deficiency genetic test is a specialized diagnostic tool used to identify mutations in the PSPH gene, which can lead to phosphoserine phosphatase deficiency. This condition is a rare metabolic disorder that affects the body’s ability to break down the amino acid serine properly, leading to a variety of health issues, including neurological problems, intellectual disability, and muscle weakness.

Conducted at DNA Labs UAE, a leading facility in genetic testing and analysis, this test is crucial for early detection and management of the disorder. By analyzing a patient’s DNA, the test can pinpoint specific mutations in the PSPH gene, providing vital information for healthcare providers to develop an appropriate treatment plan and offer genetic counseling to affected families.

The cost of the PSPH gene phosphoserine phosphatase deficiency genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to accurately identify the presence of genetic mutations associated with the condition. Early diagnosis through this test can significantly improve the quality of life for individuals with phosphoserine phosphatase deficiency by allowing for timely interventions and support.

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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.

SKU: TEST-2593