CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile NGS Genetic DNA Test
Understanding CPT2 Deficiency and Its Clinical Importance
Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare inherited metabolic disorder that affects the body’s ability to break down long-chain fatty acids for energy production. The infantile form represents the most severe manifestation of this condition, typically presenting within the first months of life with life-threatening metabolic crises. Our advanced NGS Genetic DNA Test provides comprehensive analysis of the CPT2 gene, enabling early detection and intervention for this serious metabolic condition.
The CPT2 enzyme plays a critical role in mitochondrial fatty acid oxidation, which is essential for energy production during fasting or periods of increased energy demand. When this enzyme is deficient, the body cannot properly utilize stored fat for energy, leading to the accumulation of toxic metabolites and potentially fatal metabolic decompensation. Early diagnosis through genetic testing is crucial for implementing life-saving dietary management and preventive care strategies.
What the Test Measures and Detects
Our comprehensive NGS Genetic DNA Test specifically analyzes the CPT2 gene for mutations associated with the infantile form of carnitine palmitoyltransferase 2 deficiency. The test provides:
- Complete sequencing of the CPT2 gene coding regions
- Detection of known pathogenic variants including missense, nonsense, and frameshift mutations
- Identification of novel variants through comprehensive analysis
- Assessment of variant pathogenicity using multiple bioinformatics tools
- Correlation of genetic findings with clinical presentation
The test utilizes next-generation sequencing technology, which offers superior sensitivity and accuracy compared to traditional genetic testing methods. This advanced approach ensures comprehensive coverage of the CPT2 gene, minimizing the risk of missing clinically significant variants.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for infants and children presenting with symptoms suggestive of CPT2 deficiency, including:
- Recurrent episodes of hypoglycemia (low blood sugar)
- Liver dysfunction or hepatomegaly (enlarged liver)
- Cardiomyopathy or cardiac arrhythmias
- Muscle weakness or hypotonia
- Metabolic acidosis during illness or fasting
- Unexplained lethargy or coma
- Elevated liver enzymes or creatine kinase levels
Family History Considerations
The test is also indicated for:
- Infants with a family history of CPT2 deficiency
- Siblings of affected individuals
- Prenatal testing when there is known family risk
- Carrier testing for family planning purposes
Benefits of Taking the CPT2 Genetic Test
Early genetic diagnosis of CPT2 deficiency offers numerous clinical advantages:
- Early Intervention: Enables prompt implementation of dietary management to prevent metabolic crises
- Treatment Planning: Guides appropriate medical management and emergency protocols
- Family Counseling: Provides accurate genetic information for family planning decisions
- Preventive Care: Helps establish preventive measures during illness or fasting periods
- Improved Outcomes: Early diagnosis significantly improves long-term prognosis and quality of life
- Reduced Hospitalizations: Proper management can prevent recurrent metabolic emergencies
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive test report provides detailed interpretation of genetic findings:
- Positive Result: Identification of pathogenic mutations confirms the diagnosis of CPT2 deficiency and guides specific management strategies
- Negative Result: Absence of known pathogenic variants significantly reduces the likelihood of CPT2 deficiency, though clinical correlation remains essential
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis for proper interpretation
- Carrier Status: Identification of single pathogenic variants indicates carrier status, important for genetic counseling
Clinical Follow-up
All positive results are accompanied by detailed recommendations for:
- Metabolic management protocols
- Dietary modifications and supplementation
- Emergency treatment plans
- Specialist referrals
- Family testing recommendations
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
To ensure accurate testing and proper interpretation of results, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures that patients nationwide have access to this specialized genetic testing.
Take Action Today
Don’t wait to get the answers you need for your child’s health. Early diagnosis of CPT2 deficiency can be life-saving. Our experienced genetic counselors and metabolic specialists are available to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CPT2 Genetic DNA Test or to speak with one of our genetic specialists. Take the first step toward accurate diagnosis and proper management of this serious metabolic condition.
