ATP2A1 Gene Brody Myopathy NGS Genetic Test
Short Name: ATP2A1 NGS
Also known as: Brody Myopathy, Brody Disease, Brody Syndrome, ATP2A1-Related Myopathy
ATP2A1 Gene Brody Myopathy 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 from the time the sample reaches 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 NGS genetic test is to detect pathogenic or likely pathogenic variants in the ATP2A1 gene and provide a molecular diagnosis of Brody myopathy. It helps the treating neurologist or geneticist confirm a clinically suspected diagnosis, distinguish ATP2A1-related myopathy from other neuromuscular disorders, and guide genetic counseling for the patient and family members.
- Test Code
- 3948
- 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 from the time the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required for this test. The patient should undergo a genetic counseling session before sampling so that a detailed family history and pedigree chart can be prepared. The referring physician will explain the purpose, benefits, and limitations of the test.
Method: Peripheral blood draw or FTA card spot collection
Laboratory Analysis
A small blood sample is collected by a trained phlebotomist. If using an FTA card, one or two drops of blood are applied to the FTA card. The sample is labeled and sent to the molecular genetics laboratory for NGS analysis.
Report Delivery
The patient can return to normal activities immediately after sample collection. The report is generally available within 3 to 4 weeks. Results should be discussed with the referring neurologist or clinical geneticist before making any medical decisions.
Timeline: Reports are generally available within 3 to 4 weeks from the time the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the ATP2A1 gene and provide a molecular diagnosis of Brody myopathy. It helps the treating neurologist or geneticist confirm a clinically suspected diagnosis, distinguish ATP2A1-related myopathy from other neuromuscular disorders, and guide genetic counseling for the patient and family members.
How to Prepare
- Free home sample collection is available for online bookings across many cities in India.
- Use an EDTA blood collection tube or the FTA card kit provided by DNA Labs India.
- Label the sample with patient name, unique ID, date, and time of collection.
- Store FTA card at room temperature in the provided protective sleeve.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Brody myopathy is often under-recognized because its symptoms can mimic other neuromuscular disorders. In patients with exercise-induced muscle stiffness and cramps without clear myotonia on electrodiagnostic testing, targeted ATP2A1 NGS testing can provide a molecular diagnosis and guide counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or severely hemolyzed blood sample
- Unlabeled or mislabeled sample
- Insufficient sample quantity
- Broken or contaminated FTA card envelope
- Extracted DNA with poor quality or quantity
Understanding Your Results
Pathogenic variant detected in ATP2A1
Molecular confirmation of Brody myopathy; genetic counseling and family screening are recommended.
Likely pathogenic variant detected
Diagnosis is highly probable; clinical correlation and further family studies may be considered.
Variant of uncertain significance (VUS)
Insufficient evidence to classify as pathogenic or benign; segregation analysis or additional functional studies may be needed.
No pathogenic variant detected
ATP2A1-related Brody myopathy is less likely; other hereditary myopathies or a non-genetic cause should be considered if symptoms persist.
Consult a neurologist or clinical geneticist if you or a family member experience muscle stiffness, cramps, weakness, or fatigue that worsens with exercise, or if there is a known family history of Brody myopathy or ATP2A1-related disease.
Limitations
- ⚠NGS may not detect large deletions, duplications, deep intronic mutations, or repeat expansions in the ATP2A1 gene
- ⚠A variant of uncertain significance may require additional family segregation studies
- ⚠A negative result does not completely exclude Brody myopathy if clinical suspicion remains high
- ⚠This test is not intended for prenatal diagnosis unless specifically validated and requested
Risks & Considerations
- ●Minimal pain or bruising at the venipuncture site
- ●Rare dizziness or fainting during blood collection
- ●Genetic results may carry emotional or psychological impact; genetic counseling is advised
Interfering Factors
- ●Inadequate quantity or quality of extracted DNA
- ●Sample contamination during collection or processing
- ●Incorrect sample labeling or patient identification
- ●Deep intronic variants or large structural variants that may not be detected by standard NGS
Compare With Similar Tests
| Test | ATP2A1 Gene Brody Myopathy NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | ATP2A1 Gene Brody Myopathy NGS Genetic Test |
Frequently Asked Questions
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