PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test
Introduction
The PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool that employs Next-Generation Sequencing (NGS) technology to identify mutations in the pyruvate carboxylase gene. This test plays a pivotal role in diagnosing metabolic disorders associated with pyruvate carboxylase deficiency, a rare genetic condition that can lead to severe neurological and metabolic complications.
What the Test Measures
This genetic test detects variations in the PC gene that may result in pyruvate carboxylase deficiency. By analyzing the DNA, healthcare providers can ascertain the presence of mutations that affect the enzyme’s functionality, crucial for the proper metabolism of carbohydrates and fats.
Who Should Consider This Test
Individuals presenting with symptoms such as developmental delays, neurological issues, or metabolic irregularities should consider this test. Additionally, those with a family history of metabolic disorders or known pyruvate carboxylase deficiency should seek testing to understand their genetic risks better.
Benefits of Taking the Test
- Early detection of metabolic disorders.
- Guidance for treatment and management options.
- Informed family planning through genetic counseling.
- Understanding the genetic basis of symptoms.
- Access to specialized care based on test results.
Understanding Your Results
Results from the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test will indicate whether any mutations are present. A genetic counselor will help interpret the results, discussing their implications for health and potential treatment pathways. It is essential to follow up with your healthcare provider to understand the best course of action based on your results.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya, providing convenient access to the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test. To ensure a smooth testing process, it is recommended to have a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected by pyruvate carboxylase deficiency.
For more information or to book your test, please call or WhatsApp us at +254711564616. Take the first step towards understanding your health today!
