CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test
Introduction to the Test
The CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test is a crucial diagnostic tool used to identify genetic mutations associated with CPT2 deficiency, a rare metabolic disorder. This condition can lead to severe health complications in newborns, making early detection vital for effective management and treatment.
What the Test Measures
This test detects mutations in the CPT2 gene, which is responsible for producing an enzyme necessary for the transport of fatty acids into the mitochondria for energy production. By identifying these mutations, healthcare providers can determine the risk of CPT2 deficiency in newborns.
Who Should Consider This Test
Newborns exhibiting symptoms such as:
- Severe lethargy
- Hypotonia (decreased muscle tone)
- Hypoglycemia (low blood sugar)
- Cardiomyopathy (heart muscle disease)
Additionally, families with a history of metabolic disorders should consider this test for early diagnosis and intervention.
Benefits of Taking the Test
- Early diagnosis of CPT2 deficiency allows for timely medical intervention.
- Helps in the management of symptoms and prevention of severe complications.
- Informs family planning and genetic counseling for at-risk families.
Understanding Your Results
Results will indicate whether mutations in the CPT2 gene are present. A positive result signifies a diagnosis of CPT2 deficiency, while a negative result indicates no identified mutations. It is essential to discuss results with a healthcare provider for personalized guidance and potential next steps.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today
Don’t wait for symptoms to arise. Ensure your child’s health by booking the CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test today. Call or WhatsApp us at +2348077798758 to schedule your appointment!
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by Carnitine Palmitoyltransferase 2 deficiency.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
