PCCB Gene Propionic Acidemia NGS Genetic DNA Test
Introduction
The PCCB Gene Propionic Acidemia NGS Genetic DNA Test is a pivotal diagnostic tool designed to identify genetic mutations associated with propionic acidemia, a rare but serious metabolic disorder. This test employs Next Generation Sequencing (NGS) technology to provide accurate and comprehensive results, helping healthcare providers make informed decisions regarding patient care.
What the Test Measures
This genetic test specifically measures mutations in the PCCB gene, which is responsible for encoding a protein involved in the metabolism of certain amino acids. By analyzing the genetic code, the test can detect abnormalities that lead to the accumulation of toxic compounds in the body, resulting in metabolic disturbances.
Who Should Consider This Test
The PCCB Gene Propionic Acidemia NGS Genetic DNA Test is recommended for individuals who exhibit symptoms of propionic acidemia, such as:
- Recurrent vomiting
- Failure to thrive in infants
- Developmental delays
- Severe metabolic acidosis
Additionally, family members of diagnosed individuals or those with a known family history of metabolic disorders should consider this genetic test.
Benefits of Taking the Test
Undergoing the PCCB Gene Propionic Acidemia NGS Genetic DNA Test offers several advantages:
- Accurate diagnosis of propionic acidemia
- Guidance for treatment and management options
- Informed family planning and genetic counseling
- Early intervention to prevent complications
Understanding Your Results
Results from the PCCB Gene Propionic Acidemia NGS Genetic DNA Test will be provided in a comprehensive report, detailing any identified mutations and their clinical significance. It is important to consult with a healthcare professional to interpret the results accurately and discuss potential next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PCCB Gene Propionic Acidemia NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with propionic acidemia.
Book Your Test Today
We have branches across Kenya, making it easy for you to access our services. To book the PCCB Gene Propionic Acidemia NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254711564616.
