PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test
Introduction to the Test
The PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with pyruvate carboxylase deficiency. This rare condition can lead to severe neurological disorders, making early detection crucial for effective management and treatment. This test employs Next Generation Sequencing (NGS) technology, which allows for a comprehensive analysis of the PC gene to determine any mutations or abnormalities.
What the Test Measures
This test specifically measures the presence of mutations in the PC gene, which is responsible for producing the enzyme pyruvate carboxylase. This enzyme plays a vital role in glucose metabolism and energy production within the body. By identifying mutations, healthcare providers can better understand the underlying causes of neurological symptoms.
Who Should Consider This Test?
Individuals who may benefit from the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test include:
- Those with a family history of neurological disorders.
- Patients exhibiting symptoms such as developmental delays, seizures, or other neurological issues.
- Individuals seeking genetic counseling for family planning.
Benefits of Taking the Test
Taking the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test offers several benefits:
- Early diagnosis of potential genetic disorders.
- Informed decision-making regarding treatment options.
- Guidance for family planning and genetic counseling.
- Access to targeted therapies and support resources.
Understanding Your Results
Results from the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test typically take 3 to 4 weeks to process. Once available, your healthcare provider will discuss the findings with you, explaining any identified mutations and their implications for your health. It is essential to interpret these results in the context of your overall clinical picture.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across major cities in Kenya, including Nairobi, Mombasa, and Kisumu, making it convenient for you to access our services. Additionally, we offer home sample collection services for your comfort.
To book the PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254711564616.
