CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile NGS Genetic DNA Test
Introduction
The CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile NGS Genetic DNA Test is a specialized diagnostic tool designed to detect genetic mutations associated with Carnitine Palmitoyltransferase 2 deficiency, a metabolic disorder that can significantly affect an infant’s health. Early detection through this test is vital for managing the condition and preventing potential complications.
What the Test Measures
This genetic test analyzes the CPT2 gene for mutations that may lead to deficiencies in the enzyme responsible for fatty acid metabolism. It employs Next Generation Sequencing (NGS) technology to provide comprehensive insights into the genetic makeup related to this disorder.
Who Should Consider This Test?
Parents should consider this test for infants displaying symptoms such as:
- Severe muscle weakness
- Hypoglycemia (low blood sugar)
- Cardiac issues
- Unexplained lethargy
Additionally, infants with a family history of metabolic disorders may also benefit from this testing.
Benefits of Taking the Test
Understanding your infant’s genetic predisposition can lead to:
- Early intervention and management strategies
- Informed family planning decisions
- Access to specialized medical care
- Peace of mind for parents
This test is a proactive step towards ensuring your child’s health and well-being.
Understanding Your Results
Results from the CPT2 Gene test will indicate whether any mutations were detected. A genetic counselor will help interpret the findings, explaining the implications for your child’s health and potential treatment options.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Ensure your child’s health is prioritized with timely genetic testing.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required is either 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 the clinical history of the patient and to draw a pedigree chart of family members affected by the disorder.
