LDHB Gene Lactate dehydrogenase-B deficiency NGS Genetic Test
Short Name: LDHB NGS Test
Also known as: LDH-B deficiency, Lactate dehydrogenase B deficiency
LDHB Gene Lactate dehydrogenase-B 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 to 4 weeks. 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
To detect mutations in the LDHB gene for accurate diagnosis of Lactate dehydrogenase-B deficiency, guiding clinical management and genetic counseling.
- Test Code
- 2123
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo a genetic counseling session to draw a family pedigree chart.
Method: Venipuncture or blood spot
Laboratory Analysis
Blood sample collected via venipuncture into an EDTA tube or as a blood spot on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bruising and keep the area clean.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the LDHB gene for accurate diagnosis of Lactate dehydrogenase-B deficiency, guiding clinical management and genetic counseling.
How to Prepare
- Bring identification and prescription
- Inform about any medications or supplements
- No specific fasting required unless advised
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing is crucial for accurate diagnosis and management of LDHB deficiency, aiding in family planning and personalized care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect labeling or documentation
Understanding Your Results
No pathogenic variants detected
Normal result, but clinical correlation with symptoms is necessary.
Pathogenic variant identified
Confirms diagnosis of Lactate dehydrogenase-B deficiency.
Variant of uncertain significance found
Further testing and genetic counseling recommended for clarification.
If symptoms persist, genetic test results are positive, or there is a family history of metabolic disorders, consult a geneticist or metabolic specialist promptly.
Limitations
- ⚠May not detect all mutation types, such as large deletions
- ⚠Requires genetic counseling for interpretation
- ⚠False negatives or positives are possible
Risks & Considerations
- ●Minor bruising or discomfort at the puncture site
- ●Rare risk of infection
- ●Potential psychological impact of results
Interfering Factors
- ●Poor sample quality
- ●Contamination during processing
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | LDHB Gene Lactate dehydrogenase-B deficiency NGS Genetic Test | Biochemical LDH assay | Sanger sequencing |
|---|---|---|---|
| Comparison | LDHB Gene Lactate dehydrogenase-B deficiency NGS Genetic Test |
Frequently Asked Questions
What is LDHB Gene Lactate dehydrogenase-B deficiency?
How is LDHB deficiency diagnosed?
What is NGS Genetic Test?
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Is home sample collection available?
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Is genetic testing necessary if biochemical tests are abnormal?
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