LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test
Short Name: LPIN1 Myoglobinuria NGS Test
Also known as: LPIN1-related myoglobinuria, Lipin-1 deficiency, Recurrent rhabdomyolysis genetic test
LPIN1 Gene Myoglobinuria acute recurrent 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 3, 2026
Overview
The purpose of this test is to diagnose LPIN1 gene mutations causing acute recurrent myoglobinuria, enabling accurate identification of the genetic basis for symptoms, guiding treatment decisions, and facilitating family screening.
- Test Code
- 5336
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with LPIN1 gene myoglobinuria.
Method: Venipuncture
Laboratory Analysis
Blood sample collection via venipuncture or use of FTA card for one drop of blood.
Report Delivery
Sample is sent to the laboratory for NGS analysis; results are delivered in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose LPIN1 gene mutations causing acute recurrent myoglobinuria, enabling accurate identification of the genetic basis for symptoms, guiding treatment decisions, and facilitating family screening.
How to Prepare
- No fasting required
- Ensure proper identification of patient
- Use sterile collection techniques
- Label sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for accurate diagnosis and management of rare genetic conditions like LPIN1 myoglobinuria, enabling personalized treatment plans."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample type
- Missing patient information
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of LPIN1 gene myoglobinuria; initiate treatment and family screening.
Negative for pathogenic variant
No LPIN1 mutation detected; consider other genetic or non-genetic causes of symptoms.
Variant of uncertain significance
Further evaluation and family studies may be needed; genetic counseling recommended.
If symptoms such as muscle pain, dark urine, or recurrent episodes persist, or if there is a family history of similar conditions, consult a geneticist or neurologist for evaluation and possible genetic testing.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
- ⚠Does not rule out other genetic causes of myoglobinuria
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Genetic privacy and discrimination concerns
- ●Psychological impact of results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
- ●Recent blood transfusion
Compare With Similar Tests
| Test | LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test | Creatine Kinase (CK) Test | Urine Myoglobin Test | Metabolic Myopathy Panel | Renal Function Test |
|---|---|---|---|---|---|
| Comparison | LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test | CK test measures muscle enzyme levels but does not identify genetic causes; NGS genetic test provides specific mutation detection. | Urine myoglobin test detects myoglobin in urine during episodes but is not diagnostic for genetic basis; genetic test identifies underlying LPIN1 mutations. | Metabolic myopathy panel may include multiple genes; LPIN1-specific test focuses on one gene for targeted diagnosis. | Renal function test assesses kidney damage from myoglobinuria but does not diagnose genetic cause; genetic test identifies root cause. |
Frequently Asked Questions
What is the LPIN1 Gene Myoglobinuria NGS Genetic Test?
What are the symptoms of LPIN1 gene myoglobinuria?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What does a positive result mean?
What if the test is negative?
Is genetic counseling required?
Can this test be used for family screening?
What are the risks of the test?
How accurate is the NGS genetic test?
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₹20,000Reference 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.
Your Data Privacy
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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