HLCS Gene Holocarboxylase Synthetase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The HLCS Gene Holocarboxylase Synthetase Deficiency NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the HLCS gene, which encodes holocarboxylase synthetase – a crucial enzyme in biotin metabolism. Early detection through this test can prevent severe neurological damage and enable life-changing interventions for affected individuals.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the HLCS gene located on chromosome 21q22.1, which plays a vital role in activating multiple carboxylase enzymes through biotinylation. The test detects:
- Pathogenic variants and mutations in the HLCS gene
- Single nucleotide polymorphisms affecting enzyme function
- Deletions, insertions, and frameshift mutations
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Important Genetic Test?
This test is particularly recommended for individuals presenting with symptoms suggestive of holocarboxylase synthetase deficiency or those with family history of metabolic disorders:
- Infants and children with unexplained metabolic acidosis
- Patients experiencing recurrent seizures or neurological symptoms
- Individuals with developmental delays or regression
- Those presenting with characteristic skin rashes (alopecia, dermatitis)
- Patients with feeding difficulties, vomiting, or lethargy
- Individuals with abnormal organic acid profiles
- Family members of diagnosed holocarboxylase synthetase deficiency patients
Significant Benefits of Early Genetic Detection
Early diagnosis through HLCS gene testing provides numerous clinical advantages:
- Prevention of Neurological Damage: Early biotin supplementation can prevent irreversible brain damage
- Personalized Treatment Planning: Enables targeted biotin therapy at appropriate dosages
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Improved Quality of Life: Timely intervention prevents severe metabolic crises
- Reduced Healthcare Costs: Early treatment minimizes hospitalizations and long-term complications
- Accurate Prognosis: Helps predict disease progression and management requirements
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates pathogenic mutations in the HLCS gene, confirming holocarboxylase synthetase deficiency diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
All results include detailed clinical implications and recommendations for management. Our genetic counselors are available to help interpret findings and discuss next steps.
Test Pricing and Technical Details
| Test Component | Details |
|---|---|
| Test Name | HLCS Gene Holocarboxylase Synthetase Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 Requirements and Preparation
To ensure accurate results and comprehensive care, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process for genetic testing
- Coordination with primary care physician and metabolic specialist
Nationwide Accessibility and Convenience
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Action for Better Health Outcomes
Don’t wait to get the answers you need for proper diagnosis and treatment. Early detection of holocarboxylase synthetase deficiency can significantly improve long-term outcomes and quality of life. Our team of genetic specialists and metabolic experts are ready to guide you through the testing process and provide comprehensive support.
Book your HLCS Gene Holocarboxylase Synthetase Deficiency NGS Genetic DNA Test today by calling our dedicated genetic testing hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward accurate diagnosis and effective management of metabolic disorders.
