HMGCS2 Gene 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Metabolic Disorders
The HMGCS2 Gene 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening utilizes Next-Generation Sequencing technology to identify mutations in the HMGCS2 gene, which plays a critical role in ketone body synthesis during fasting states. Early detection of this rare autosomal recessive disorder is essential for preventing severe metabolic crises and ensuring proper developmental outcomes.
What Does This Test Detect?
Our comprehensive NGS genetic test specifically targets:
- Pathogenic variants in the HMGCS2 gene located on chromosome 1p12
- Mutations affecting mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase enzyme function
- Genetic alterations that disrupt ketogenesis pathways
- Inheritance patterns for autosomal recessive metabolic disorders
- Specific nucleotide changes impacting enzyme catalytic activity
Clinical Significance of HMGCS2 Deficiency
HMGCS2 deficiency disrupts the body’s ability to produce ketone bodies during fasting periods, leading to severe metabolic complications. The enzyme encoded by the HMGCS2 gene is essential for converting acetyl-CoA into HMG-CoA, a critical step in hepatic ketogenesis. When this pathway is compromised, individuals cannot effectively utilize fat stores for energy during fasting, resulting in life-threatening hypoglycemia and metabolic acidosis.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Unexplained recurrent hypoglycemia, especially during fasting or illness
- Metabolic acidosis without clear etiology
- Developmental delays or neurological symptoms
- Family history of metabolic disorders or sudden infant death
- Failure to thrive in infancy or early childhood
- Episodes of lethargy, vomiting, or seizures triggered by fasting
- Abnormal organic acid profiles in urine testing
Early Detection Saves Lives
Children with HMGCS2 deficiency often present during the first years of life with severe metabolic decompensation. Without proper diagnosis and management, these episodes can lead to permanent neurological damage or fatal outcomes. Genetic testing provides the definitive diagnosis needed to implement life-saving dietary interventions and emergency protocols.
Benefits of HMGCS2 Genetic Testing
- Definitive Diagnosis: Eliminates diagnostic uncertainty and enables targeted treatment
- Family Planning: Identifies carrier status and recurrence risks for future pregnancies
- Personalized Management: Guides specific dietary modifications and emergency protocols
- Preventive Care: Allows for proactive management to prevent metabolic crises
- Comprehensive Analysis: NGS technology provides thorough gene coverage with high accuracy
- Genetic Counseling: Supports informed decision-making for affected families
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
Positive Result
A positive result indicates the presence of pathogenic mutations in both copies of the HMGCS2 gene, confirming the diagnosis of 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency. This result enables immediate implementation of:
- Strict fasting avoidance protocols
- Frequent feeding schedules with complex carbohydrates
- Emergency sick-day management plans
- Regular monitoring of blood glucose and ketone levels
- Specialized metabolic team coordination
Carrier Status
Identification of a single pathogenic mutation indicates carrier status. While carriers are typically asymptomatic, this information is crucial for family planning and genetic counseling.
Negative Result
A negative result significantly reduces the likelihood of HMGCS2 deficiency but does not completely rule out metabolic disorders. Further metabolic testing may be recommended based on clinical presentation.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | HMGCS2 Gene 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 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 |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of symptoms and previous metabolic testing
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located throughout 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 network of certified genetic counselors and metabolic specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Metabolic Health Today
Don’t let unexplained symptoms or family history of metabolic disorders go unaddressed. Our HMGCS2 genetic test provides the answers you need for proper diagnosis and management. Early detection can prevent serious complications and improve quality of life for affected individuals.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Take the first step toward definitive diagnosis and personalized treatment for metabolic disorders. Contact us now to learn more about how genetic testing can provide clarity and direction for your health journey.
