PCBD1 Gene Hyperphenylalaninemia BH4 deficient type D Genetic Test
At DNA Labs UAE, we offer the PCBD1 Gene Hyperphenylalaninemia BH4 deficient type D Genetic Test at a cost of 4400.0 AED. This test is used to diagnose individuals with Hyperphenylalaninemia, BH4 deficiency, type D.
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
Prior to undergoing the PCBD1 Gene Hyperphenylalaninemia BH4 deficient type D 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 Hyperphenylalaninemia, BH4 deficiency, type D.
Test Details
The PCBD1 gene is responsible for producing an enzyme called 6-pyruvoyl tetrahydrobiopterin synthase (PTPS). This enzyme is involved in the synthesis of tetrahydrobiopterin (BH4), a cofactor required for the function of several enzymes, including phenylalanine hydroxylase (PAH).
Hyperphenylalaninemia refers to elevated levels of phenylalanine in the blood. In BH4 deficiency, there is a disruption in the production or function of BH4, leading to reduced activity of PAH. PAH is responsible for converting phenylalanine to tyrosine, and its deficiency results in the accumulation of phenylalanine and the development of hyperphenylalaninemia.
Type D BH4 deficiency is specifically caused by mutations in the PCBD1 gene. This type of BH4 deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the PCBD1 gene (one from each parent) to develop the condition.
NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic variations, including mutations, deletions, or insertions. In the context of PCBD1 gene hyperphenylalaninemia, BH4 deficient, type D, NGS genetic testing would involve sequencing the PCBD1 gene to identify any mutations that may be causing the condition.
This type of genetic testing can help confirm a diagnosis of BH4 deficiency and provide information about the specific genetic variants present in an individual. It can also be useful for genetic counseling and family planning purposes.
| Test Name | PCBD1 Gene Hyperphenylalaninemia BH4 deficient type D 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 PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4 deficient, type D |
| Test Details |
The PCBD1 gene is responsible for producing an enzyme called 6-pyruvoyl tetrahydrobiopterin synthase (PTPS). This enzyme is involved in the synthesis of tetrahydrobiopterin (BH4), a cofactor required for the function of several enzymes, including phenylalanine hydroxylase (PAH). Hyperphenylalaninemia refers to elevated levels of phenylalanine in the blood. In BH4 deficiency, there is a disruption in the production or function of BH4, leading to reduced activity of PAH. PAH is responsible for converting phenylalanine to tyrosine, and its deficiency results in the accumulation of phenylalanine and the development of hyperphenylalaninemia. Type D BH4 deficiency is specifically caused by mutations in the PCBD1 gene. This type of BH4 deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the PCBD1 gene (one from each parent) to develop the condition. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic variations, including mutations, deletions, or insertions. In the context of PCBD1 gene hyperphenylalaninemia, BH4 deficient, type D, NGS genetic testing would involve sequencing the PCBD1 gene to identify any mutations that may be causing the condition. This type of genetic testing can help confirm a diagnosis of BH4 deficiency and provide information about the specific genetic variants present in an individual. It can also be useful for genetic counseling and family planning purposes. |
