HMGCL Gene 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Health
The HMGCL Gene 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited metabolic disorders. This specialized genetic analysis utilizes next-generation sequencing technology to examine the HMGCL gene, which plays a critical role in the body’s metabolic processes. Early detection through this test can significantly impact treatment outcomes and quality of life for affected individuals.
What This Test Measures and Detects
This advanced genetic test specifically targets the HMGCL gene to identify mutations associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. The test examines:
- Complete HMGCL gene sequencing for pathogenic variants
- Point mutations, deletions, and insertions affecting gene function
- Autosomal recessive inheritance patterns
- Metabolic pathway disruptions in leucine catabolism
Who Should Consider This Test
This genetic test is recommended for individuals displaying symptoms or having risk factors for metabolic disorders:
- Infants and children with unexplained metabolic crises
- Individuals with recurrent episodes of vomiting and lethargy
- Patients with developmental delays or neurological symptoms
- Those with family history of metabolic disorders
- Individuals with abnormal organic acid profiles
- Newborns with suspected inborn errors of metabolism
Key Benefits of Genetic Testing
Undergoing HMGCL gene testing provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt intervention and management
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Informs dietary modifications and medical management
- Risk Assessment: Identifies carrier status in family members
- Preventive Care: Helps prevent metabolic crises through proper management
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of HMGCL gene mutations requiring specialized metabolic care
- Negative Result: Suggests low probability of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results within 3-4 weeks.
Take Control of Your Metabolic Health Today
Don’t wait to get the answers you need about your genetic health. Our experienced genetic counselors are available to discuss your testing options and provide personalized guidance. Contact us today to schedule your HMGCL gene test and take the first step toward understanding your metabolic health.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic specialists.
