HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic Test
Short Name: Holocarboxylase Synthetase Deficiency Test
Also known as: HLCS Deficiency, Holocarboxylase Synthetase Deficiency
HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Holocarboxylase Synthetase Deficiency by identifying pathogenic mutations in the HLCS gene through next-generation sequencing, enabling early treatment with biotin therapy to prevent severe complications.
- Test Code
- 2076
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling to discuss test implications, obtain informed consent, and document detailed family history with a pedigree chart.
Method: Venipuncture or finger prick for FTA card
Laboratory Analysis
Standard blood draw via venipuncture or one drop on FTA card, using aseptic techniques to ensure sample integrity.
Report Delivery
Sample labeled securely and transported to the laboratory under appropriate conditions for DNA extraction and sequencing.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Holocarboxylase Synthetase Deficiency by identifying pathogenic mutations in the HLCS gene through next-generation sequencing, enabling early treatment with biotin therapy to prevent severe complications.
How to Prepare
- Ensure proper patient identification and labeling
- Use sterile collection equipment
- Avoid hemolysis during blood draw
- Store samples at recommended temperature (e.g., room temperature for blood, -20°C for DNA)
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS testing for HLCS gene mutations enables early and precise diagnosis of Holocarboxylase Synthetase Deficiency, allowing for timely intervention with biotin therapy to prevent severe complications like neurological damage."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample without proper labeling
- Insufficient volume for analysis
- Hemolyzed or clotted blood sample
- Improper storage or transport conditions
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of Holocarboxylase Synthetase Deficiency. Immediate biotin supplementation and metabolic management are required.
No pathogenic mutation detected
Unlikely to have the disorder based on this gene, but clinical correlation advised if symptoms persist. Consider other genetic or metabolic causes.
Variant of uncertain significance (VUS)
Further testing, family studies, or functional analysis may be needed to determine clinical relevance.
Consult a geneticist or metabolic specialist if you or your child have symptoms like poor feeding, vomiting, lethargy, or seizures, or if there is a family history of Holocarboxylase Synthetase Deficiency. After testing, discuss results with a healthcare provider for personalized management.
Limitations
- ⚠May not detect all mutation types (e.g., large deletions or rearrangements)
- ⚠Requires clinical correlation for definitive diagnosis
- ⚠False negatives possible in rare cases
Risks & Considerations
- ●Minimal risks from blood draw: bruising, infection, or discomfort
- ●Psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Insufficient sample volume
Compare With Similar Tests
| Test | HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic Test | Sanger Sequencing | Biochemical Testing (e.g., organic acids) |
|---|---|---|---|
| Comparison | HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic Test |
Frequently Asked Questions
What is HLCS Gene Holocarboxylase Synthetase Deficiency?
Who should get this NGS Genetic Test?
How is the test performed?
What are the symptoms of Holocarboxylase Synthetase Deficiency?
What is the cost of the HLCS Gene NGS Genetic Test?
How long does it take to get results?
Is home sample collection available for this test?
What if a mutation is found in my HLCS gene?
Is the genetic test painful?
Can this test be done for newborns?
How accurate is the NGS test for diagnosing this deficiency?
What should I do before getting tested?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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