DYSF Gene Limb-girdle muscular dystrophy, autosomal recessive type 2B NGS Genetic Test
Short Name: DYSF LGMD2B NGS Test
Also known as: LGMD2B Genetic Test, DYSF Gene Mutation Analysis, Dysferlinopathy NGS Test
DYSF Gene Limb-girdle muscular dystrophy, autosomal recessive type 2B 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 delivered within 3 to 4 weeks after the sample is received by 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
To confirm the clinical diagnosis of limb-girdle muscular dystrophy type 2B (LGMD2B) by identifying pathogenic variants in the DYSF gene using NGS technology. It also helps in carrier detection and genetic counselling of at-risk family members when a familial mutation is known.
- Test Code
- 4200
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A valid consent is necessary. A genetic counselling session will be conducted to draw a pedigree chart of family members affected with the disease.
Method: Peripheral blood draw / FTA card spot
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card sample, a drop of blood is placed on the card and allowed to dry.
Report Delivery
The sample should be transported to the laboratory as per instructions. Whole blood samples must not be frozen and should be kept at ambient temperature.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm the clinical diagnosis of limb-girdle muscular dystrophy type 2B (LGMD2B) by identifying pathogenic variants in the DYSF gene using NGS technology. It also helps in carrier detection and genetic counselling of at-risk family members when a familial mutation is known.
How to Prepare
- Ensure the sample tube is properly labeled with patient name and ID
- Use an EDTA vacuum tube for whole blood collection
- For FTA card, fill the marked circles completely with blood
- Do not refrigerate FTA card samples; keep them dry at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation of LGMD2B guides management and counselling. This NGS test offers a reliable, single-step approach for DYSF mutation detection."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Improperly labeled specimens
- Insufficient blood volume or inadequate sample for DNA extraction
- Samples exposed to extreme heat or repeated freezing-thawing
Understanding Your Results
Positive - Pathogenic or likely pathogenic variant identified
Confirms the diagnosis of LGMD2B. Genetic counseling is recommended for the patient and family members.
Action: Discuss with a neurologist and genetic counselor for management and family planning.
Negative - No pathogenic/likely pathogenic variant identified
Does not exclude LGMD2B if clinical suspicion is strong; other genetic or acquired causes should be considered.
Action: Consider further testing such as a comprehensive LGMD panel or muscle biopsy.
Variant of Uncertain Significance (VUS)
A change in the DYSF gene was detected but its clinical significance is not yet established.
Action: Follow-up familial segregation studies and functional studies may be required to clarify the variant's role.
If the test result is positive for a pathogenic DYSF mutation, consult a neurologist and clinical geneticist to discuss treatment, rehabilitation and reproductive options. Also, if you experience unexplained muscle weakness and your doctor suspects LGMD, ask about this test.
Limitations
- ⚠NGS may not detect large exon dosage alterations, deep intronic variants, or certain repeat expansions that could cause LGMD2B
- ⚠Results may include variants of uncertain significance (VUS) which require further evaluation
- ⚠This test does not rule out other types of LGMD caused by genes other than DYSF
Risks & Considerations
- ●No significant physical risks are associated with blood collection apart from minor bruising or discomfort at the puncture site.
- ●Possible psychological stress from receiving a genetic diagnosis.
- ●Risk of incidental findings unrelated to the clinical question.
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection or processing
- ●Presence of maternal cell contamination in prenatal samples (not applicable for postnatal blood/FTA samples)
Frequently Asked Questions
What is the DYSF gene and how is it related to LGMD2B?
Who is a candidate for this NGS genetic test?
What is the cost of the DYSF gene LGMD2B NGS test in India?
What clinical samples are accepted for this test?
Do I need to be fasting before giving a blood sample?
How long does it take to receive the test report?
Can this test confirm the diagnosis of LGMD2B?
Are there any risks or discomfort associated with sample collection?
Is genetic counseling available before ordering this test?
What does a positive result mean?
What does a negative result mean?
How accurate is NGS technology for detecting DYSF mutations?
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