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GCH1 Gene Hyperphenylalaninemia BH4-Deficient B Genetic Test

4,400 د.إ

-21%

The GCH1 Gene Hyperphenylalaninemia BH4-Deficient B Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to detect mutations in the GCH1 gene, which are associated with BH4-deficient Hyperphenylalaninemia (HPA) type B. This condition is a rare metabolic disorder characterized by elevated levels of phenylalanine in the blood, due to a deficiency in tetrahydrobiopterin (BH4), a cofactor essential for the metabolism of several amino acids, including phenylalanine. Early detection and treatment are crucial to prevent developmental delays and neurological issues associated with the condition.

The test involves analyzing the patient’s DNA to identify any genetic variations in the GCH1 gene that may lead to the dysfunction of BH4 synthesis. It is a critical tool for clinicians in the diagnosis and management of patients with suspected BH4-deficient Hyperphenylalaninemia, allowing for timely intervention and personalized treatment plans.

DNA Labs UAE offers this comprehensive genetic testing service at a cost of 4400 AED. The test is conducted in their state-of-the-art facilities, ensuring high-quality, reliable results for patients and healthcare providers.

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  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test

Welcome to DNA Labs UAE, a leading genetic testing laboratory in the UAE. We offer the GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test, a comprehensive genetic test that analyzes the GCH1 gene for mutations associated with hyperphenylalaninemia caused by tetrahydrobiopterin deficiency (BH4-deficient hyperphenylalaninemia).

Test Details

The GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test is a type of genetic test that analyzes the GCH1 gene for mutations associated with hyperphenylalaninemia caused by BH4 deficiency. Hyperphenylalaninemia refers to elevated levels of the amino acid phenylalanine in the blood. This condition can be caused by various genetic mutations, including mutations in the GCH1 gene.

The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1, which is involved in the production of BH4. BH4 is a cofactor required for the proper function of several enzymes, including those involved in the breakdown of phenylalanine. Mutations in the GCH1 gene can lead to a deficiency of BH4, resulting in the accumulation of phenylalanine in the blood and subsequent neurological problems. This condition is known as BH4-deficient hyperphenylalaninemia.

The GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test uses Next-Generation Sequencing (NGS) technology to analyze the GCH1 gene for mutations. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variations associated with the condition.

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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B. This information helps in understanding the genetic background and inheritance pattern of the condition.

Treatment and Management

If BH4-deficient hyperphenylalaninemia is diagnosed through the GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test, treatment typically involves a special diet low in phenylalanine and supplementation with BH4 or other cofactors to restore the balance of phenylalanine metabolism. It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and to discuss appropriate management options.

At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test can help in the diagnosis of BH4-deficient hyperphenylalaninemia and guide treatment decisions. Contact us today to learn more about our services and schedule an appointment.

Test Name GCH1 Gene Hyperphenylalaninemia BH4-deficient B Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B
Test Details

GCH1 gene hyperphenylalaninemia, BH4-deficient, B NGS genetic test is a type of genetic test that analyzes the GCH1 gene for mutations associated with hyperphenylalaninemia (HPA) caused by tetrahydrobiopterin (BH4) deficiency.

Hyperphenylalaninemia refers to elevated levels of the amino acid phenylalanine in the blood. It can be caused by various genetic mutations, including mutations in the GCH1 gene. The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1, which is involved in the production of BH4. BH4 is a cofactor required for the proper function of several enzymes, including those involved in the breakdown of phenylalanine.

Mutations in the GCH1 gene can lead to a deficiency of BH4, resulting in the accumulation of phenylalanine in the blood and subsequent neurological problems. This condition is known as BH4-deficient hyperphenylalaninemia.

The GCH1 gene hyperphenylalaninemia, BH4-deficient, B NGS genetic test uses Next-Generation Sequencing (NGS) technology to analyze the GCH1 gene for mutations. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variations associated with the condition.

This genetic test can help in the diagnosis of BH4-deficient hyperphenylalaninemia and guide treatment decisions. Treatment typically involves a special diet low in phenylalanine and supplementation with BH4 or other cofactors to restore the balance of phenylalanine metabolism.

It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and to discuss appropriate management options.