ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic Test
Short Name: ANO5 LGMD2L NGS Test
Also known as: ANO5 gene mutation analysis, LGMD2L genetic testing, Limb-girdle muscular dystrophy type 2L NGS panel, ANO5-related myopathy testing
ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation, Multiplex Ligation-dependent Probe Amplification (MLPA) for copy number variants on Blood (EDTA) or Extracted DNA or One drop Blood on FTA Card samples. Results in Sample processing typically begins after sample receipt and review. Reports are issued in 3 to 4 weeks (21–28 days) after the sample is accepted.. 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 primary purpose of this test is to identify bi-allelic pathogenic variants in the ANO5 gene to confirm the clinical diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2L. It is also useful for carrier identification, reproductive risk assessment, and differentiation from other LGMD subtypes with overlapping clinical features.
- Test Code
- 4212
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood (EDTA) or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Sample processing typically begins after sample receipt and review. Reports are issued in 3 to 4 weeks (21–28 days) after the sample is accepted.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation, Multiplex Ligation-dependent Probe Amplification (MLPA) for copy number variants
Sample Collection
A genetic counseling session is recommended to draw a three-generation pedigree and provide informed consent. No fasting is required. Please bring a copy of any relevant clinical reports, biopsy findings, or prior genetic test results.
Method: Peripheral venipuncture or FTA card spot
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist using a sterile EDTA vacutainer. If using FTA card, a drop of blood is spotted onto the card and allowed to air dry.
Report Delivery
The sample is labeled and sent to the processing laboratory. Patients are advised to keep their collection appointment details and follow any courier instructions if self-collection is used.
Timeline: Sample processing typically begins after sample receipt and review. Reports are issued in 3 to 4 weeks (21–28 days) after the sample is accepted.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify bi-allelic pathogenic variants in the ANO5 gene to confirm the clinical diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2L. It is also useful for carrier identification, reproductive risk assessment, and differentiation from other LGMD subtypes with overlapping clinical features.
How to Prepare
- Home sample collection is available free of cost for online bookings.
- For blood sample: Use an EDTA (purple-top) vacuum tube and fill to the indicated mark.
- For FTA card: Spot blood from a finger prick clearly within the labeled circles.
- Do not send a frozen blood sample as hemolysis may affect DNA extraction.
- Ship at ambient temperature; do not refrigerate if using FTA card.
- Include patient ID, date of birth, and signed consent form with the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation is essential in LGMD2L to establish an accurate diagnosis, guide surveillance and provide recurrence risk information. I recommend this NGS panel for individuals with proximal weakness, elevated CK, and a suspected myopathic process."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample.
- Insufficient quantity of blood (<1 ml) or DNA (<1 µg).
- Unlabeled or mislabeled sample.
- Sample in formalin or unsuitable transport medium.
- Suspected contamination or leaking blood bag.
Understanding Your Results
Confirms a molecular diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2L. Genetic counseling and family segregation studies are recommended.
Indicates carrier status when no second variant is detected, or the second variant is a VUS. Clinical correlation and family studies are necessary.
A diagnosis of ANO5-related LGMD2L is unlikely. Consider other LGMD genes or alternative myopathies through a broader neuromuscular NGS panel.
A genetic change was found, but its clinical impact is not yet clear. Additional testing in family members may help reclassify the variant. Clinical correlation is advised.
Consult your physician or genetic counselor immediately if your ANO5 test result is positive, if you receive a VUS result, or if you have a family history of LGMD. Also consult if you experience progressive proximal muscle weakness, inability to climb stairs, repeated falls, or difficulty lifting the arms.
Limitations
- ⚠NGS may not detect deep intronic variants, large structural rearrangements, or trinucleotide repeat expansions.
- ⚠Variant of uncertain significance (VUS) may be reported; further familial testing may be needed to re-classify.
- ⚠This targeted test does not rule out other LGMD genes that may cause a similar phenotype.
- ⚠Negative result does not exclude all forms of limb-girdle muscular dystrophy.
- ⚠Mosaic mutations may be below the limit of detection.
- ⚠Genetic test results should always be interpreted in the context of clinical and family history.
Risks & Considerations
- ●Minimal risk of bruising at the venipuncture site.
- ●Dizziness or fainting during blood draw (rare).
- ●Potential psychological impact of genetic test results.
Interfering Factors
- ●Recent allogeneic hematopoietic stem cell transplantation (blood DNA may reflect donor genotype).
- ●Maternal blood contamination in prenatal samples (not applicable for this routine test).
- ●Sample mix-up or mislabeling.
- ●Poor DNA quality or insufficient quantity.
- ●Presence of a second pathogenic variant in a pseudogene or homologous region (rare).
Compare With Similar Tests
| Test | ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic Test |
Frequently Asked Questions
What is ANO5 LGMD2L?
Who should take the ANO5 gene NGS genetic test?
What is the cost of the ANO5 LGMD2L NGS genetic test?
How is the sample collected?
Is fasting required for this test?
How long does it take to get results?
What does a positive result mean?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
Can this test be used for carrier testing?
Does this test cover all types of LGMD?
How do I book the ANO5 NGS genetic test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.