CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal NGS Genetic DNA Test
Comprehensive Introduction to CPT2 Deficiency Testing
Carnitine palmitoyltransferase 2 (CPT2) deficiency represents a critical metabolic disorder that affects fatty acid oxidation in newborns. This lethal neonatal condition disrupts the body’s ability to convert fats into energy, particularly during periods of fasting or illness. Our advanced NGS Genetic DNA Test provides definitive diagnosis by examining the CPT2 gene for pathogenic mutations that cause this life-threatening condition.
The importance of early detection cannot be overstated. CPT2 deficiency manifests rapidly in newborns and can lead to sudden metabolic crises, liver failure, cardiomyopathy, and unexpected infant death. By identifying at-risk infants through genetic screening, healthcare providers can implement life-saving interventions and dietary modifications before irreversible damage occurs.
What This Test Measures and Detects
Our comprehensive NGS-based genetic analysis specifically targets:
- Complete sequencing of the CPT2 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with lethal neonatal form
- Assessment of genetic variations affecting enzyme function
- Evaluation of inheritance patterns for family planning
The test utilizes next-generation sequencing technology to provide high-resolution analysis of the entire CPT2 gene, ensuring comprehensive coverage of all potential mutation sites. This advanced methodology significantly improves detection rates compared to traditional genetic testing methods.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals and families experiencing:
- Unexplained neonatal deaths in family history
- Infants presenting with hypoglycemia, lethargy, or feeding difficulties
- Family history of metabolic disorders or fatty acid oxidation defects
- Previous children with similar symptoms or diagnostic uncertainty
- Consanguineous relationships increasing genetic risk
- Prenatal screening for high-risk pregnancies
Specific Clinical Presentations
Newborns with CPT2 deficiency typically exhibit:
- Severe hypoglycemia without ketosis
- Hepatomegaly and liver dysfunction
- Cardiac abnormalities including cardiomyopathy
- Neurological symptoms and developmental delays
- Metabolic acidosis and hyperammonemia
- Sudden deterioration during fasting or illness
Significant Benefits of CPT2 Genetic Testing
Early genetic identification provides numerous advantages:
- Life-Saving Interventions: Enables immediate medical management to prevent metabolic crises
- Family Planning Guidance: Provides accurate recurrence risk information for future pregnancies
- Preventive Care Strategies: Allows implementation of specialized dietary regimens
- Reduced Diagnostic Uncertainty: Eliminates prolonged diagnostic odyssey for families
- Comprehensive Genetic Counseling: Supports informed decision-making for affected families
- Improved Neonatal Outcomes: Significantly reduces mortality and morbidity rates
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes:
- Positive Result: Identification of pathogenic mutations confirms CPT2 deficiency diagnosis, requiring immediate medical intervention and specialized care
- Negative Result: No detected mutations significantly reduces likelihood of CPT2 deficiency, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation for definitive interpretation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Clinical Follow-Up Recommendations
Based on test results, we recommend:
- Immediate consultation with metabolic specialists for positive findings
- Implementation of preventive dietary measures and emergency protocols
- Family cascade testing to identify at-risk relatives
- Regular monitoring and developmental assessments
- Coordination with pediatric cardiology and neurology services
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Metabolic Genetics
- Department: Genetics
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to document family pedigree
- Identification of affected family members for correlation
- Informed consent understanding test implications and limitations
- Insurance pre-authorization when applicable
Nationwide Availability and Booking
We maintain comprehensive genetic testing facilities across the United States, with specialized centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures accessible genetic services for families nationwide.
Take the first step toward protecting your newborn’s health. Book your CPT2 Genetic DNA Test today by calling our genetic specialists at +1(267) 388-9828 or schedule your appointment through our online portal. Early detection saves lives – don’t wait until symptoms appear.
Our dedicated genetic counseling team is available to discuss your concerns, explain the testing process, and provide comprehensive support throughout your genetic journey. Contact us now to schedule your pre-test genetic counseling session and begin the path to definitive answers.
