CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test
Introduction
The CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool that helps identify genetic mutations associated with metabolic disorders. This test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive insights into the CPT1B gene, which plays a critical role in the metabolism of fatty acids.
What the Test Measures
This genetic test measures the presence of mutations in the CPT1B gene, which can lead to carnitine palmitoyltransferase 1B deficiency. This deficiency disrupts the body’s ability to metabolize certain fats, which can result in severe metabolic complications.
Who Should Consider This Test
This test is recommended for individuals exhibiting symptoms of metabolic disorders such as:
- Severe hypoglycemia
- Muscle weakness
- Fatigue
- Cardiac issues
- Family history of metabolic disorders
Benefits of Taking the Test
Taking the CPT1B Gene test offers several benefits, including:
- Accurate diagnosis of CPT1B deficiency
- Guidance for treatment and management options
- Family planning insights through genetic counseling
- Early intervention possibilities to prevent severe complications
Understanding Your Results
Results from the CPT1B Gene test will indicate whether any mutations are present in the CPT1B gene. A genetic counselor will assist in interpreting these results and discussing potential implications for health and family.
Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Pre-Test Instructions
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card.
Pre-Test Instructions: A genetic counseling session is required to draw a pedigree chart of family members affected with Carnitine Palmitoyltransferase 1B deficiency.
Branches and Booking
We have branches across major cities in Kenya, providing convenient access to our services. You can also opt for our home sample collection service. To book the CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
