CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test
Introduction
The CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test is a specialized diagnostic tool designed to identify mutations in the CPT1B gene, which plays a crucial role in the metabolism of fatty acids. This test is essential for individuals suspected of having metabolic disorders related to carnitine transport, providing vital information for effective management and treatment.
What the Test Measures
This genetic test detects specific mutations within the CPT1B gene, which is responsible for encoding an enzyme necessary for the transport of long-chain fatty acids into the mitochondria. By analyzing the genetic material, the test helps determine if an individual carries a mutation that may lead to CPT1B deficiency.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Severe hypoglycemia
- Muscle weakness or pain
- Elevated levels of fatty acids in the blood
- Family history of metabolic disorders
should consider this test. Additionally, those with risk factors for metabolic disorders may benefit from genetic testing.
Benefits of Taking the Test
- Accurate diagnosis of CPT1B deficiency.
- Informed decision-making regarding treatment options.
- Understanding of genetic risks for family members.
- Access to specialized nutritional and medical guidance.
Understanding Your Results
Results will indicate the presence or absence of mutations in the CPT1B gene. A positive result may suggest the need for further medical evaluation and management, while a negative result can provide reassurance regarding metabolic health. It is advisable to discuss results with a healthcare provider for comprehensive understanding and next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency NGS Genetic DNA Test, please contact us at +2348077798758 via call or WhatsApp. Our team is ready to assist you in scheduling your appointment and addressing any inquiries you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required can be blood or extracted DNA, or one drop of blood on an FTA card. Prior to the test, a genetic counseling session is recommended to gather a clinical history and create a pedigree chart of family members affected by CPT1B deficiency.
