FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I NGS Genetic Test
Short Name: FKRP Gene LGMD2I NGS Test
Also known as: FKRP Gene Sequencing, LGMD2I Genetic Test, FKRP Mutation Analysis
FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I 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 typically available within 3 to 4 weeks from the date the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect mutations in the FKRP gene that cause limb-girdle muscular dystrophy type 2I. The test helps differentiate LGMD2I from other muscular dystrophies, confirms clinical diagnosis, and provides information for carrier testing and reproductive counseling.
- Test Code
- 4206
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks from the date the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A pre-test genetic counseling session is recommended to draw a pedigree chart of family members affected with FKRP-related limb-girdle muscular dystrophy. The patient should provide a clinical history of symptoms and any prior diagnostic workup.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A peripheral blood sample is collected from a vein using an EDTA vacutainer. Alternatively, a finger-prick blood spot on an FTA card is accepted. Extracted DNA of adequate quality can also be submitted. The procedure is quick and minimally invasive.
Report Delivery
No specific precautions are required after sample collection. Patients can return to normal activities immediately. The sample will be transported to the laboratory for processing.
Timeline: Reports are typically available within 3 to 4 weeks from the date 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 mutations in the FKRP gene that cause limb-girdle muscular dystrophy type 2I. The test helps differentiate LGMD2I from other muscular dystrophies, confirms clinical diagnosis, and provides information for carrier testing and reproductive counseling.
How to Prepare
- Ensure the EDTA vacutainer is properly labeled with patient name, date, and time of collection
- For FTA card, apply one drop of blood from a finger-prick and allow to dry completely
- If submitting extracted DNA, provide DNA quantity and purity data
- Submit the completed test requisition form with relevant clinical details
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"A confirmed genetic diagnosis of LGMD2I is essential not only for patient management but also for reproductive counseling. NGS-based FKRP gene testing provides a reliable foundation for informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Incorrectly labeled or unlabeled samples
- Samples received after the stability period
- FTA cards that are wet, contaminated, or damaged
Understanding Your Results
No pathogenic variants detected
No mutation was found in the FKRP gene. This does not exclude LGMD2I if clinical suspicion remains high; evaluate other LGMD-related genes.
One pathogenic variant detected (heterozygous)
The patient carries one mutation in the FKRP gene. In an autosomal recessive condition, a second variant may be present but missed; further testing or family studies may be needed.
Two pathogenic variants detected (homozygous or compound heterozygous)
This confirms the diagnosis of LGMD2I in a patient with compatible clinical features. Both variants are likely responsible for the condition.
Variant of uncertain significance (VUS) detected
A genetic variant was found, but its role in disease is unclear. Additional family studies or functional assays may be needed to clarify its significance.
Consult a neurologist or clinical geneticist if you or your child have symptoms suggestive of LGMD2I, such as progressive muscle weakness of the hips and shoulders, difficulty climbing stairs, or a family history of muscular dystrophy. Genetic testing should be considered after clinical evaluation and specialist review.
Limitations
- ⚠NGS may not detect large deletions, duplications, or trinucleotide repeat expansions
- ⚠Deep intronic variants may be missed
- ⚠Variants of uncertain significance may require additional family segregation analysis
- ⚠Test does not assess all genes associated with limb-girdle muscular dystrophy
Risks & Considerations
- ●There are no significant physical risks from blood collection or finger-prick sampling
- ●Possible bruising or slight pain at the puncture site
- ●Psychosocial impact of genetic findings, including anxiety or family repercussions
- ●Potential for uncertain results (VUS) requiring additional testing
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination
- ●Somatic mosaicism
- ●Genetic variants in non-coding regulatory regions may not be detected by standard NGS
Compare With Similar Tests
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| Comparison | FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I NGS Genetic Test |
Frequently Asked Questions
What is Limb-girdle muscular dystrophy type 2I (LGMD2I)?
How is LGMD2I inherited?
What is the role of the FKRP gene?
Who should consider this FKRP gene NGS test?
What sample is needed for the test?
Is fasting required before the test?
What is the cost of the test at DNA Labs India?
How long do results take?
What do the results of the test indicate?
Can this test help in genetic counseling?
Why does DNA Labs India provide raw data with the report?
Are there any risks associated with genetic testing?
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