QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C Genetic Test sale cost 4400 AED
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QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C Genetic Test Cost

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

-21%

The “QDPR Gene Hyperphenylalaninemia BH4 Deficient Type C Genetic Test” is a specialized diagnostic procedure designed to identify mutations in the QDPR gene, which are associated with Hyperphenylalaninemia (HPA) BH4 Deficient Type C. This condition is a rare metabolic disorder characterized by the body’s inability to process the amino acid phenylalanine properly due to a deficiency in tetrahydrobiopterin (BH4), a cofactor necessary for the phenylalanine hydroxylase enzyme. This leads to an accumulation of phenylalanine in the blood, which can cause various neurological issues if not treated early.

The test involves analyzing the patient’s DNA to detect specific genetic alterations in the QDPR gene, which plays a crucial role in the recycling of BH4. Identifying these mutations can help in confirming a diagnosis of BH4 Deficient Type C Hyperphenylalaninemia, facilitating early intervention and management strategies to prevent potential complications.

This genetic test is available at DNA Labs UAE, a leading facility in the region for advanced genetic diagnostics. The cost of the test is 4400 AED, reflecting the specialized nature of the analysis and the sophisticated technology used. By opting for this test, patients and healthcare providers can gain valuable insights into the genetic basis of the condition, enabling personalized treatment plans that address the specific needs of those affected by this rare disorder.

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QDPR Gene Hyperphenylalaninemia BH4 deficient type C Genetic Test

Introduction

The QDPR gene is associated with a condition called Hyperphenylalaninemia, BH4 deficient, type C. This condition is characterized by a deficiency in tetrahydrobiopterin (BH4), a cofactor required for the activity of the enzyme phenylalanine hydroxylase (PAH). PAH is responsible for converting the amino acid phenylalanine to another amino acid called tyrosine.

Test Details

A genetic test using Next-Generation Sequencing (NGS) technology can be performed to analyze the QDPR gene for any potential pathogenic variants or mutations. This test involves sequencing the entire coding region of the QDPR gene to identify any changes in the DNA sequence that may disrupt the normal function of the gene.

Components and Price

Test Name: QDPR Gene Hyperphenylalaninemia BH4 deficient type C Genetic Test

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery

Report Delivery Time: 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 QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4 deficient, type C

Treatment

Identifying pathogenic variants in the QDPR gene can help confirm a diagnosis of Hyperphenylalaninemia, BH4 deficient, type C and guide appropriate treatment options. Treatment typically involves dietary restrictions to manage phenylalanine levels and supplementation with BH4 or other cofactors to support PAH activity.

Test Name QDPR Gene Hyperphenylalaninemia BH4 deficient type C 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 QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4 deficient, type C
Test Details

The QDPR gene is associated with a condition called Hyperphenylalaninemia, BH4 deficient, type C. This condition is characterized by a deficiency in tetrahydrobiopterin (BH4), a cofactor required for the activity of the enzyme phenylalanine hydroxylase (PAH). PAH is responsible for converting the amino acid phenylalanine to another amino acid called tyrosine.

A genetic test using Next-Generation Sequencing (NGS) technology can be performed to analyze the QDPR gene for any potential pathogenic variants or mutations. This test involves sequencing the entire coding region of the QDPR gene to identify any changes in the DNA sequence that may disrupt the normal function of the gene.

Identifying pathogenic variants in the QDPR gene can help confirm a diagnosis of Hyperphenylalaninemia, BH4 deficient, type C and guide appropriate treatment options. Treatment typically involves dietary restrictions to manage phenylalanine levels and supplementation with BH4 or other cofactors to support PAH activity.

SKU: TEST-2455 Category:

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