CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Health
The CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the CPT1A gene, which plays a critical role in fatty acid metabolism. Early detection of carnitine palmitoyltransferase 1A deficiency can prevent life-threatening metabolic crises and enable proactive management strategies.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the CPT1A gene located on chromosome 11, which encodes the carnitine palmitoyltransferase 1A enzyme. The test identifies:
- Point mutations and single nucleotide variants in the CPT1A gene
- Insertions and deletions affecting enzyme function
- Missense, nonsense, and frameshift mutations
- Regulatory region variants impacting gene expression
- Known pathogenic variants associated with CPT1A deficiency
Understanding Carnitine Palmitoyltransferase 1A Deficiency
Carnitine palmitoyltransferase 1A deficiency is an autosomal recessive metabolic disorder that impairs the body’s ability to transport long-chain fatty acids into mitochondria for energy production. This deficiency can lead to severe metabolic crises, particularly during periods of fasting, illness, or increased energy demands.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Infants and children with recurrent hypoglycemia or hypoketotic hypoglycemia
- Patients experiencing metabolic crises triggered by fasting or illness
- Individuals with elevated liver enzymes or hepatomegaly of unknown origin
- Children showing developmental delays or neurological symptoms
- Patients with family history of metabolic disorders or sudden infant death
- Newborns with abnormal newborn screening results for carnitine metabolism
Clinical Symptoms and Indications
Common clinical presentations that warrant CPT1A genetic testing include:
- Severe hypoglycemia without ketosis
- Liver dysfunction and hepatomegaly
- Muscle weakness and fatigue
- Developmental regression in children
- Increased ammonia levels in blood
- Cardiomyopathy or cardiac abnormalities
Benefits of CPT1A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt intervention before severe metabolic crises occur
- Personalized Treatment: Guides dietary management and medical therapy
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Preventive Care: Helps establish monitoring protocols for at-risk family members
- Accurate Prognosis: Offers insights into disease progression and management expectations
- Research Contribution: Advances understanding of metabolic disorders and treatment options
Understanding Your Test Results
Your CPT1A genetic test results will be carefully interpreted by our team of genetic specialists:
Possible Result Interpretations
- Normal Result: No pathogenic variants detected in the CPT1A gene
- Carrier Status: One pathogenic variant identified, indicating carrier status without disease manifestation
- Affected Status: Two pathogenic variants confirming CPT1A deficiency diagnosis
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
Post-Test Guidance
Following your test results, our genetic counseling team will provide:
- Comprehensive explanation of genetic findings
- Personalized management recommendations
- Dietary and lifestyle guidance
- Family testing recommendations
- Long-term monitoring strategies
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Pre-Test Preparation and Requirements
To ensure accurate results, please provide:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Information about affected family members with metabolic symptoms
- Previous laboratory test results and imaging studies
Nationwide Availability and Booking
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, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Metabolic Health Today
Don’t wait for symptoms to escalate. Early detection of CPT1A deficiency can significantly improve quality of life and prevent serious complications. Our experienced genetic counselors and metabolic specialists are ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CPT1A genetic test and take the first step toward understanding your metabolic health.
Our dedicated team is available to answer your questions, explain the testing process, and help you make informed decisions about your genetic health. With our discounted pricing at only $500 USD, comprehensive metabolic genetic testing has never been more accessible.
