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LARS2 Gene Hydrops, lactic acidosis, and sideroblastic anemia NGS Genetic Test

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LARS2 Gene Hydrops, lactic acidosis, and sideroblastic anemia NGS Genetic Test

Short Name: LARS2 Gene Hydrops, Lactic Acidosis, Sideroblastic Anemia NGS Test

Also known as: LARS2 gene disorder, Hydrops-lactic acidosis-sideroblastic anemia syndrome

LARS2 Gene Hydrops, lactic acidosis, and sideroblastic anemia 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify pathogenic mutations in the LARS2 gene for accurate diagnosis of hydrops, lactic acidosis, and sideroblastic anemia, facilitating early treatment and genetic counseling.

Test Code
5593
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample sent to laboratory for analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications and draw family pedigree.
2
During the Test:Blood sample collection procedure as per standard protocols.
3
After the Test:Results reviewed by geneticist; follow-up counseling provided.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the LARS2 gene for accurate diagnosis of hydrops, lactic acidosis, and sideroblastic anemia, facilitating early treatment and genetic counseling.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for LARS2 mutations is crucial for families with a history of metabolic disorders, enabling timely intervention and informed reproductive decisions."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the LARS2 gene. Positive results confirm genetic basis for symptoms, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms LARS2 gene mutation; recommend genetic counseling and clinical management.

📊

Negative for pathogenic variant

No mutations detected; consider other genetic or metabolic causes.

📊

Variant of uncertain significance

Further analysis and family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms such as hydrops, lactic acidosis, anemia, developmental delays, or seizures are present, or if there is a family history of LARS2 mutations.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • Minimal risk from blood draw: bruising, infection, or discomfort

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Frequently Asked Questions

What is the LARS2 Gene NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the LARS2 gene, associated with hydrops, lactic acidosis, and sideroblastic anemia.
Who should consider this test?
Individuals with symptoms like hydrops, lactic acidosis, anemia, developmental delays, seizures, or a family history of LARS2 mutations.
What are the symptoms of LARS2 gene mutations?
Symptoms include hydrops fetalis, lactic acidosis, sideroblastic anemia, developmental delays, seizures, and hypotonia.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify genetic variants.
What is the cost of the test?
The test costs INR 20,000 in India, with home collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results mean?
Results indicate presence or absence of pathogenic LARS2 mutations; genetic counseling is provided for interpretation.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss results and implications.
Are there any risks associated with the test?
Risks are minimal, similar to a standard blood draw, such as bruising or discomfort.
Can this test be used for prenatal diagnosis?
It is not standard for prenatal diagnosis; consult a geneticist for appropriate prenatal testing options.
How accurate is the NGS technology?
NGS provides high accuracy for detecting genetic variants, but results should be interpreted in clinical context.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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