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PTS Gene Hyperphenylalaninemia BH4-Deficient Type A Genetic Test Cost

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

-21%

The PTS Gene Hyperphenylalaninemia BH4-Deficient Type A Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the PTS gene. This gene is crucial for the production of tetrahydrobiopterin (BH4), a coenzyme involved in the metabolism of several amino acids, including phenylalanine. Mutations in the PTS gene can lead to BH4-deficient hyperphenylalaninemia Type A, a rare metabolic disorder characterized by elevated levels of phenylalanine in the blood. This condition can lead to various neurological issues if left untreated. The test, priced at 4400 AED, is a critical tool for early detection and management, allowing for appropriate treatment plans to be devised to mitigate the risk of severe complications associated with this genetic disorder. DNA Labs UAE utilizes advanced genetic testing technologies to ensure accurate and reliable results, facilitating the best possible outcomes for affected individuals and their families.

Description

PTS Gene Hyperphenylalaninemia BH4-deficient type A 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 PTS Gene Hyperphenylalaninemia, BH4-deficient, type A NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4-deficient, type A

Test Details:

PTS Gene Hyperphenylalaninemia, BH4-deficient, type A NGS Genetic Test is a genetic test that analyzes the PTS gene for mutations associated with hyperphenylalaninemia (HPA) and tetrahydrobiopterin (BH4) deficiency type A. HPA is a condition characterized by high levels of phenylalanine in the blood, which can lead to intellectual disability and other neurological problems if not treated. BH4 is an essential cofactor for the production of neurotransmitters, and its deficiency can cause a range of neurological symptoms. The NGS (Next-Generation Sequencing) technique used in this genetic test allows for the simultaneous analysis of multiple genes, including the PTS gene, to identify any disease-causing mutations. By identifying specific mutations in the PTS gene, healthcare professionals can confirm a diagnosis of BH4-deficient HPA and provide appropriate treatment and management strategies. This genetic test is particularly beneficial for individuals with suspected HPA or BH4 deficiency type A, as it provides a more comprehensive analysis of the genetic variants associated with these conditions. It can also be useful for genetic counseling and family planning purposes, as it can identify carriers of the mutations and provide information about the likelihood of passing on the condition to future generations. It is important to note that this test should be ordered and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate counseling and guidance based on the test results.

Test Name	PTS Gene Hyperphenylalaninemia BH4-deficient type A 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 PTS Gene Hyperphenylalaninemia, BH4-deficient, type A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4-deficient, type A
Test Details	PTS Gene Hyperphenylalaninemia, BH4-deficient, type A NGS Genetic Test is a genetic test that analyzes the PTS gene for mutations associated with hyperphenylalaninemia (HPA) and tetrahydrobiopterin (BH4) deficiency type A. HPA is a condition characterized by high levels of phenylalanine in the blood, which can lead to intellectual disability and other neurological problems if not treated. BH4 is an essential cofactor for the production of neurotransmitters, and its deficiency can cause a range of neurological symptoms. The NGS (Next-Generation Sequencing) technique used in this genetic test allows for the simultaneous analysis of multiple genes, including the PTS gene, to identify any disease-causing mutations. By identifying specific mutations in the PTS gene, healthcare professionals can confirm a diagnosis of BH4-deficient HPA and provide appropriate treatment and management strategies. This genetic test is particularly beneficial for individuals with suspected HPA or BH4 deficiency type A, as it provides a more comprehensive analysis of the genetic variants associated with these conditions. It can also be useful for genetic counseling and family planning purposes, as it can identify carriers of the mutations and provide information about the likelihood of passing on the condition to future generations. It is important to note that this test should be ordered and interpreted by a qualified healthcare professional, such as a geneticist or genetic counselor, who can provide appropriate counseling and guidance based on the test results.