YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 NGS Genetic Test
Short Name: YARS2 MLASA Type 2 NGS Test
Also known as: MLASA Type 2 NGS Genetic Test, YARS2 Gene Mutation Analysis, Mitochondrial Tyrosyl-tRNA Synthetase 2 Gene Test, YARS2 Myopathy Genetic Test
YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 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 Reports are generally available within 3 to 4 weeks after the sample is received by the laboratory.. 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 detect clinically significant sequence variants in the YARS2 gene. It helps confirm or rule out the diagnosis of YARS2-related myopathy, lactic acidosis, and sideroblastic anemia type 2 and supports clinical management, family screening, and genetic counselling.
- Test Code
- 4380
- ICD Code
- D64.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient should carry the test requisition form and identity proof. A genetic counselling session is performed before testing to document clinical history and draw a pedigree chart when indicated.
Method: Venipuncture or one-drop blood on FTA card
Laboratory Analysis
A blood sample is collected by a trained phlebotomist using standard venipuncture. For an FTA card sample, one drop of blood is applied to the marked area and allowed to air dry. The sample is labelled and transported to the laboratory for NGS analysis.
Report Delivery
The patient can resume normal activities immediately. Results are expected within 3 to 4 weeks. A genetic counsellor or referring clinician should discuss the report with the patient and family.
Timeline: Reports are generally available within 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect clinically significant sequence variants in the YARS2 gene. It helps confirm or rule out the diagnosis of YARS2-related myopathy, lactic acidosis, and sideroblastic anemia type 2 and supports clinical management, family screening, and genetic counselling.
How to Prepare
- Do not send a serum or clotted sample for this DNA test
- Use an EDTA blood collection tube for whole blood samples
- For FTA cards, allow the blood spot to air dry completely before sealing
- Samples must be labelled with patient name and unique ID
- Store whole blood at 2-8°C if transport is delayed; do not freeze whole blood
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Once a YARS2 variant is identified in a family, consultation with an Ob-Gyn clinical geneticist can help the family understand recurrence risk and available reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled sample
- Inappropriate sample type such as serum
- Clotted sample when whole blood is required
- Insufficient sample quantity or poor DNA quality
- Degraded DNA due to improper transport or storage
Understanding Your Results
Pathogenic variant detected
Confirms a molecular diagnosis of YARS2-related MLASA type 2. Genetic counselling is recommended.
Likely pathogenic variant detected
Supports the clinical diagnosis; confirmatory family studies may be helpful.
Variant of uncertain significance (VUS)
Inconclusive result. Further segregation analysis or functional studies may be needed.
No pathogenic variant detected
No reportable YARS2 variant identified. Other genetic or acquired causes should be considered.
Consult a doctor if you or your child have unexplained muscle weakness, poor exercise tolerance, elevated lactic acid, persistent anemia, seizures, hearing loss, or a family history of MLASA type 2.
Risks & Considerations
- ●Minimal pain or bruising at the venipuncture site
- ●Dizziness or light-headedness during blood collection
- ●Very low risk of infection at the puncture site
Interfering Factors
- ●Low DNA quantity or quality
- ●Contamination during sample collection or laboratory processing
- ●Rare technical sequencing artefacts
- ●Deep intronic or regulatory variants may not be captured by this targeted NGS test
Compare With Similar Tests
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| Comparison | YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 NGS Genetic Test |
Frequently Asked Questions
What is YARS2 gene myopathy, lactic acidosis, and sideroblastic anemia type 2?
How is the YARS2 NGS genetic test performed?
Do I need to fast before this test?
What is the cost of the YARS2 MLASA Type 2 NGS Genetic Test at DNA Labs India?
What sample types are accepted for this test?
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What does a negative result mean?
Will I receive raw data files with my clinical report?
Is genetic counselling included in this test?
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