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LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test

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LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test

Short Name: LPIN1 NGS Test

Also known as: LPIN1-Related Myoglobinuria, Acute Recurrent Rhabdomyolysis, Lipin-1 Deficiency

LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the LPIN1 gene causing recurrent myoglobinuria for accurate diagnosis, management, and genetic counseling.

Test Code
1744
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
NGS Technology
Step 1

Sample Collection

No specific preparation required; inform about any medications or conditions.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Blood draw via venipuncture or FTA card application; minimal discomfort.

Step 3

Report Delivery

Apply pressure to puncture site; store sample properly.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended; provide clinical history and family pedigree.
2
During the Test:Sample collection as per instructions; no active intervention needed.
3
After the Test:Wait for report delivery; discuss results with physician or geneticist.

About This Test

Who Should Get This Test

To identify mutations in the LPIN1 gene causing recurrent myoglobinuria for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient room temperature

Doctor's Notes

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

"Genetic testing for LPIN1 mutations is essential for diagnosing recurrent myoglobinuria, guiding management, and informing family planning due to its hereditary nature."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate presence or absence of pathogenic variants in the LPIN1 gene. Positive results confirm diagnosis; negative results may require further testing.
📊

Confirms LPIN1-related myoglobinuria; guide management and genetic counseling.

📊

Reduced likelihood, but clinical correlation needed; consider other disorders.

📊

May require family studies or repeat testing; genetic counseling advised.

⚠️ When to Consult a Doctor:

If symptoms recur, results are positive, or family planning is considered.

Limitations

  • ⚠May not detect all variants due to technological limits
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Does not replace clinical evaluation

Risks & Considerations

  • ●Minimal risks from blood draw, e.g., bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality (e.g., hemolyzed blood)
  • ●Contaminated DNA extract

Compare With Similar Tests

TestLPIN1 Gene Myoglobinuria acute recurrent NGS Genetic TestCreatine Kinase (CK) TestMyoglobin Urine TestMuscle BiopsyOther Rhabdomyolysis Gene Panels
ComparisonLPIN1 Gene Myoglobinuria acute recurrent NGS Genetic TestCK test measures muscle damage but not genetic cause; NGS test identifies specific mutations.Detects myoglobin in urine indicating rhabdomyolysis; NGS test determines genetic etiology.Invasive procedure for structural analysis; NGS test is non-invasive and genetic-focused.May include multiple genes; LPIN1-specific test targets one gene for cost-effectiveness.

Frequently Asked Questions

What is the LPIN1 Gene Myoglobinuria Acute Recurrent NGS Genetic Test?
It is a genetic test using NGS technology to detect mutations in the LPIN1 gene that cause recurrent muscle breakdown and myoglobinuria.
What is the cost of this test in India?
The cost is INR 20,000, with free home sample collection available across many cities.
What are the symptoms indicating need for this test?
Symptoms include recurrent muscle pain, dark urine, elevated creatine kinase, unexplained rhabdomyolysis, and fatigue.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS to identify LPIN1 gene mutations.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India.
What does a positive result mean?
It confirms mutations in the LPIN1 gene, aiding diagnosis and management of the disorder.
Is genetic counseling necessary before testing?
Yes, pre-test genetic counseling is recommended to draw a pedigree chart and understand implications.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible in known families, but requires consultation with a genetic specialist.
What are the risks of the test?
Risks are minimal, primarily from blood draw (e.g., bruising), with potential psychological impacts of results.
Where can I get the test done?
DNA Labs India offers this test nationwide; check online or contact for specific city availability.
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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For Hospitals & Clinics

Reference Laboratory Services

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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