LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic Test
Short Name: LIAS Gene NGS Test
Also known as: LIAS Deficiency Genetic Test, Lipoic Acid Synthetase Gene Sequencing, LIAS NGS Panel, PDH Lipoic Acid Synthetase Gene Test, LIAS Mutation Analysis
LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request.. 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 identify mutations in the LIAS gene that cause pyruvate dehydrogenase lipoic acid synthetase deficiency. It is used to confirm clinical suspicion of the disorder, guide management decisions, enable accurate genetic counseling, and facilitate carrier testing and prenatal or preimplantation genetic diagnosis for at-risk families.
- Test Code
- 2229
- CPT Code
- 81404
- ICD Code
- E88.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis
Sample Collection
No special preparation such as fasting is required. Ensure that a Genetic Counselling session is completed prior to sample collection to draw a detailed pedigree chart of family members affected with or suspected to have pyruvate dehydrogenase lipoic acid synthetase deficiency. Provide complete clinical history of the patient, including prior metabolic workup results, imaging studies, and family history.
Method: Venipuncture / FTA Card finger-prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer, or a single drop of blood can be applied to an FTA card. The sample is labeled accurately and sealed for transport under ambient room temperature conditions.
Report Delivery
The sample is transported to the DNA Labs India molecular genetics laboratory under controlled conditions. DNA extraction is performed, followed by NGS library preparation, sequencing, and bioinformatics analysis. A comprehensive report with variant interpretation is generated and reviewed by a clinical geneticist.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the LIAS gene that cause pyruvate dehydrogenase lipoic acid synthetase deficiency. It is used to confirm clinical suspicion of the disorder, guide management decisions, enable accurate genetic counseling, and facilitate carrier testing and prenatal or preimplantation genetic diagnosis for at-risk families.
How to Prepare
- Collect 3-5 mL peripheral venous blood in EDTA (purple top) vacutainer or apply one drop of blood to an FTA card
- Label the sample tube clearly with patient name, date of birth, and unique sample ID
- Store at ambient room temperature; do not freeze or expose to excessive heat
- Transport to the laboratory within 48 hours of collection
- Include completed test requisition form and informed consent document with the sample
- Ensure Genetic Counselling session documentation accompanies the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"LIAS gene deficiency is a rare autosomal recessive metabolic disorder. Early molecular diagnosis through NGS is critical for initiating supportive therapy and enabling informed family planning decisions. Prenatal and carrier testing options should be discussed with families during genetic counseling sessions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparin (green top) tube, as heparin inhibits PCR and NGS library preparation
- Hemolyzed, clotted, or insufficient volume samples
- Incorrectly labeled or unlabeled samples
- Samples received without completed requisition form or consent
- Contaminated or leaking sample containers
Understanding Your Results
Confirms the diagnosis of LIAS gene pyruvate dehydrogenase lipoic acid synthetase deficiency. Two pathogenic mutations detected on both alleles. Genetic counseling and family screening are recommended.
Confirms the diagnosis. Two different pathogenic mutations detected, one on each allele of the LIAS gene. This is consistent with autosomal recessive inheritance.
The individual is a carrier of LIAS deficiency. Carrier testing of parents and genetic counseling are recommended. Carrier individuals are typically unaffected but can pass the mutation to offspring.
A genetic variant was identified that cannot currently be classified as pathogenic or benign. Clinical correlation, family studies, and functional data may be needed. Re-analysis may be performed as new evidence becomes available.
No disease-causing mutations in the LIAS gene were identified. This result does not completely exclude LIAS deficiency if clinical suspicion is high, as some variants may be outside the detection range. Consider additional metabolic and molecular testing.
Consult a clinical geneticist or metabolic specialist if your child exhibits unexplained lactic acidosis, developmental delays, seizures, poor feeding, failure to thrive, hypotonia, or respiratory difficulties. If a family member has been diagnosed with LIAS gene deficiency, genetic counseling is recommended for carrier assessment and family planning. Consult your doctor immediately if newborn screening results suggest a metabolic disorder.
Limitations
- ⚠This test does not detect large structural rearrangements beyond the detection capability of the NGS platform unless specifically analyzed
- ⚠Variants of Uncertain Significance (VUS) may be identified that cannot be definitively classified at the time of reporting
- ⚠Deep intronic variants and regulatory region mutations outside the targeted region may not be detected
- ⚠This test does not assess mitochondrial DNA mutations or mutations in other genes involved in the pyruvate dehydrogenase complex
- ⚠Results should always be interpreted in the context of clinical findings and family history by a qualified geneticist
Risks & Considerations
- ●Minimal risk associated with blood draw, including minor bruising, discomfort, or rare infection at the puncture site
- ●Psychological impact of receiving a genetic diagnosis for a serious metabolic disorder
- ●Potential identification of variants of uncertain significance that may cause anxiety
- ●Implications for family members who may need carrier testing or genetic counseling
Interfering Factors
- ●Degraded or insufficient DNA quality in the sample
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Contamination of the sample during collection or transport
- ●Presence of mosaicism at low levels may not be detected by standard NGS coverage
Compare With Similar Tests
| Test | LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic Test | Sanger Sequencing of LIAS Gene | Biochemical Testing (Lactate/Pyruvate Levels) | Whole Exome Sequencing (WES) | Mitochondrial DNA Sequencing |
|---|---|---|---|---|---|
| Comparison | LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic Test | Sanger sequencing examines one exon at a time and is less cost-effective for full gene analysis. NGS provides comprehensive coverage of the entire coding region simultaneously with higher throughput and sensitivity for variant detection. | Biochemical tests such as blood lactate and pyruvate levels can suggest a metabolic disorder but cannot identify the specific genetic cause. NGS genetic testing provides a definitive molecular diagnosis. | WES analyzes all coding regions across the entire genome and may be considered when targeted gene panels are inconclusive. The LIAS-specific NGS test is more focused and cost-effective when clinical suspicion is high for this particular gene. | Mitochondrial DNA sequencing detects mutations in mitochondrial genes only. LIAS is a nuclear gene, so nuclear gene NGS testing is required. Both tests may be ordered as part of a comprehensive mitochondrial disorder workup. |
Frequently Asked Questions
What is the LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency NGS Genetic Test?
Who should undergo this genetic test?
What is the cost of the LIAS Gene NGS Genetic Test in India?
What sample type is required for this test?
How long does it take to receive the test results?
How accurate is NGS testing for detecting LIAS gene mutations?
Is home sample collection available for this test?
What does it mean if a Variant of Uncertain Significance (VUS) is found?
Is LIAS gene deficiency inherited?
Can this test be used for prenatal diagnosis?
What is the difference between this test and Whole Exome Sequencing?
Does DNA Labs India provide genetic counseling with this test?
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