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ANO5 Gene Miyoshi muscular dystrophy type 3 NGS Genetic Test

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ANO5 Gene Miyoshi muscular dystrophy type 3 NGS Genetic Test

Short Name: ANO5 MD Type 3 NGS Test

Also known as: ANO5 Gene Sequencing, Miyoshi Muscular Dystrophy Type 3 Genetic Test, Anoctamin-5 Gene NGS Test

ANO5 Gene Miyoshi muscular dystrophy type 3 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 from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of this NGS genetic test is to identify disease-causing mutations in the ANO5 gene. This confirms a diagnosis of Miyoshi muscular dystrophy type 3 and allows for carrier identification, genetic counselling, and risk assessment for family members.

Test Code
4334
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or dietary restrictions required. Please bring your clinical case summary, family history, and any previous creatine kinase (CK) or electromyography (EMG) reports. Genetic counselling is recommended before the test so that informed consent can be obtained.

Method: Venipuncture for blood; FTA card blood spot; extracted DNA submission

Step 2

Laboratory Analysis

Blood is drawn from a vein in the arm using standard sterile technique. For FTA card collection, a small drop of blood is applied onto the card. For extracted DNA, a sample tube is provided and must contain sufficient DNA as per laboratory requirements.

Step 3

Report Delivery

No aftercare is required. The puncture site may be covered with a cotton swab and pressure applied to stop bleeding. Normal daily activities can be resumed.

Timeline: 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:Before the test, no specific preparation is required. However, patients should provide their clinical history and informed consent in accordance with genetic testing guidelines.
2
During the Test:A small blood sample will be taken or an FTA card blood spot may be collected. The procedure takes around 5-10 minutes.
3
After the Test:You can return to your normal routine immediately. The laboratory will process the sample, and the report will be shared after 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify disease-causing mutations in the ANO5 gene. This confirms a diagnosis of Miyoshi muscular dystrophy type 3 and allows for carrier identification, genetic counselling, and risk assessment for family members.

How to Prepare

  • No fasting is required.
  • The sample can be collected at home through our free collection service or at the DNA Labs India collection centre.
  • For blood, use an EDTA (purple cap) tube.
  • Ensure the sample is labeled with the patient name, date and identification number.
  • Inform the collection team if the patient has been advised any genetic counselling prior to collection.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This targeted NGS test is valuable in the differential diagnosis of distal myopathies. Detecting ANO5 mutations helps tailor management and genetic counselling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume0.5-2 mL blood / 1-2 FTA card spots / 200-500 ng DNA
ContainerEDTA vacutainer / FTA card / DNA elution tube
Collection MethodVenipuncture for blood; FTA card blood spot; extracted DNA submission

Sample Stability

Whole blood (EDTA): 24 hours at room temperature
Whole blood (EDTA): 5 days at 2-8°C
FTA card: Stable for months at room temperature in a dry and closed pouch
Extracted DNA: Stable for at least 1 year at -20°C
Sample Rejection Criteria:
  • Clotted blood samples
  • Severely hemolysed or frozen whole blood
  • Inadequately labelled sample
  • Sample received after the stability period

Understanding Your Results

The test result must be interpreted by an accredited clinical geneticist or a consultant in neuromuscular medicine. Genotype-phenotype correlation and family history are essential for understanding the clinical significance of ANO5 variants. The report will clearly state whether a pathogenic, likely pathogenic, or VUS is identified and will include an interpretation in the context of the patient's symptoms.
📊

Pathogenic or likely pathogenic variant detected

Confirms a molecular diagnosis of ANO5-related Miyoshi muscular dystrophy type 3 or LGMD2L. Appropriate genetic counselling and family cascade testing should be discussed.

📊

Variant of uncertain significance (VUS)

The variant cannot be definitively linked to the disorder. Testing of affected and unaffected family members may help reclassify the variant. The result should not be used alone for carrier or prenatal decisions.

📊

No pathogenic variant detected

Reduces the likelihood of ANO5-related myopathy, but does not exclude the clinical diagnosis due to possible genetic heterogeneity or the limitations of NGS. Further evaluation by a neurologist is recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you have unexplained calf weakness, difficulty climbing stairs, frequent falls, or elevated CK levels. If you have a family member with Miyoshi muscular dystrophy or LGMD2L, discuss genetic testing and carrier screening. A positive result should always be followed by genetic counselling and medical management planning.

Limitations

  • ⚠This NGS assay detects single nucleotide variants and small insertions/deletions in coding exons and splice junctions of ANO5. Large deletions/duplications, structural rearrangements, and deep intronic variants may not be detected.
  • ⚠A negative result does not completely exclude ANO5-related myopathy if there is strong clinical evidence; additional testing such as Sanger sequencing or gene panel may be required.
  • ⚠Variants of uncertain significance may require familial segregation studies to establish clinical significance.
  • ⚠This test is not a whole-genome or whole-exome screen; it does not evaluate other known myopathy genes.

Risks & Considerations

  • ●Bruising or hematoma at the blood draw site
  • ●Dizziness or fainting (vasovagal reaction) during collection
  • ●Emotional and psychological impact of a genetic test result

Interfering Factors

  • ●Sample contamination with another individual's DNA
  • ●Maternal cell contamination in umbilical cord blood samples (not applicable if blood is used)
  • ●Presence of an allogeneic stem cell transplant donor's blood

Frequently Asked Questions

What is the ANO5 Gene Miyoshi Muscular Dystrophy Type 3 NGS Genetic Test?
It is a targeted next-generation sequencing (NGS) test that screens the ANO5 gene for mutations that cause Miyoshi muscular dystrophy type 3 and limb-girdle muscular dystrophy R12 (LGMD2L).
What is Miyoshi Muscular Dystrophy Type 3?
Miyoshi muscular dystrophy type 3 is a rare inherited muscle disease first affecting the calf muscles, typically presenting in early adulthood with muscle weakness and atrophy.
How is the ANO5 gene test performed?
A blood sample is collected in an EDTA tube, or blood spots are placed on an FTA card. Alternatively, extracted DNA can be submitted. The laboratory uses NGS technology to sequence all coding exons and conserved splice sites of the ANO5 gene.
What is the cost of this test?
The test is available at DNA Labs India for INR 20000.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Do I need to fast before the test?
No. Fasting is not required for this genetic test.
How long does it take to get the results?
The reports are available in 3 to 4 weeks from the date the sample is received.
Why is genetic counselling recommended before this test?
Genetic counselling is recommended to review the test's benefits and limitations, obtain informed consent, and discuss the potential implications of a positive result for the patient and their family.
Can this test identify carriers of the condition?
Yes. This test can identify heterozygous carriers who have one mutated copy of ANO5 but are usually asymptomatic.
Which gene is analysed in this test?
The test analyses only the ANO5 gene, which provides instructions for making anoctamin-5 protein, involved in muscle membrane repair and maintenance.
Are there any risks in this genetic test?
There are no serious medical risks. A blood draw may cause minor bruising or discomfort. The psychological and social implications should be discussed with a genetic counsellor.
What does a negative result mean?
A negative result means no pathogenic variant was found in the ANO5 gene. It does not eliminate the possibility of muscular dystrophy, as other genes or non-genetic causes may be responsible.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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