CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test
The CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test is a vital diagnostic tool designed to identify genetic metabolic disorders in newborns. This test utilizes Next Generation Sequencing (NGS) technology to analyze the CPT2 gene, which plays a crucial role in fat metabolism. Early detection of CPT2 deficiency can lead to timely interventions, significantly improving health outcomes for affected infants.
What Does the Test Measure?
This test specifically detects mutations in the CPT2 gene, which can lead to severe metabolic disorders. By analyzing the genetic material, healthcare providers can determine if a newborn is at risk for Carnitine Palmitoyltransferase 2 deficiency, a condition that can cause life-threatening complications.
Who Should Consider This Test?
Parents who have a family history of metabolic disorders or those who notice symptoms in their newborns, such as:
- Severe lethargy
- Low muscle tone
- Hypoglycemia
- Cardiomyopathy
should consider this test. Additionally, infants who present with unexplained symptoms during the neonatal period may benefit from genetic testing.
Benefits of Taking the Test
- Early diagnosis allows for timely medical interventions.
- Helps in understanding the genetic risks for other family members.
- Guides treatment options, including dietary management and supplementation.
- Provides peace of mind for parents regarding their child’s health.
Understanding Your Results
Results will typically be available within 3 to 4 weeks. A genetic counselor will provide guidance on interpreting the findings, discussing potential implications for treatment and family planning. It’s essential to have a clinical history of the patient and a genetic counseling session to create a pedigree chart of affected family members.
Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
We have branches across all major cities in Kenya and offer home sample collection services for your convenience. Book the CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test today! For more information, call or WhatsApp us at +254711564616.
