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DAG1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 NGS Genetic Test

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DAG1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 NGS Genetic Test

Short Name: DAG1 LGMD Type C9 NGS Test

Also known as: Limb-girdle muscular dystrophy-dystroglycanopathy type C9 (LGMD-DGC9), DAG1-related muscular dystrophy

DAG1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 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 Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. You can access them via the online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To confirm a clinical diagnosis of DAG1-related limb-girdle muscular dystrophy type C9 by identifying pathogenic variants in the DAG1 gene, and to provide information useful for inheritance, genetic counseling, and management.

Test Code
4364
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. You can access them via the online portal, email, or WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Please carry a valid prescription or clinical referral if available. A genetic counselling session is recommended before the test, especially in the context of family history.

Method: Peripheral venipuncture or FTA card spot

Step 2

Laboratory Analysis

Blood sample will be drawn from a vein in your arm, or an FTA card blood spot/ DNA sample will be taken as per the chosen method. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You may resume normal activities immediately. The sample will be transported to the laboratory for processing. Ensure you provide correct contact details to receive your report.

Timeline: Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. You can access them via the online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:No special preparation is required. Attend a genetic counselling session if possible. Discuss your symptoms and family history with your doctor.
2
During the Test:The collection process is simple and painless. For blood collection, a small needle is used; for FTA card, a finger prick. You can ask questions and inform the technician if you feel unwell.
3
After the Test:You can return to everyday activities. Your sample will be processed after it reaches the lab. The results are typically available within 3-4 weeks.

About This Test

Who Should Get This Test

To confirm a clinical diagnosis of DAG1-related limb-girdle muscular dystrophy type C9 by identifying pathogenic variants in the DAG1 gene, and to provide information useful for inheritance, genetic counseling, and management.

How to Prepare

  • Use an EDTA vacutainer for whole blood (2-3 ml).
  • For FTA card, apply one drop of blood (3-5 mm spot) and allow to dry at room temperature.
  • For extracted DNA, use a molecular biology grade tube with at least 1-2 µg DNA.
  • Label the sample with the patient's name and date of collection.
  • Transport at ambient temperature within 24-48 hours for blood; FTA card can be shipped at room temperature.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing provides a definitive diagnosis in muscular dystrophies, enabling tailored management and reproductive counseling for at-risk families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml whole blood | 1 FTA spot | 1-2 µg extracted DNA
ContainerEDTA vacutainer / FTA card / Elution tube
Collection MethodPeripheral venipuncture or FTA card spot

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at room temperature; may be stored at 2-8°C for up to 72 hours.
FTA card dried blood spot: stable at room temperature for several weeks.
Extracted DNA: stable for longer periods at -20°C or below.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood
  • Insufficient sample quantity
  • Improper storage or prolonged transport at extreme temperatures
  • Unlabeled or mislabeled sample

Understanding Your Results

The genetic test report should be interpreted in the context of clinical findings, family history, and biochemical results. A pathogenic variant in the DAG1 gene confirms the diagnosis of dystroglycanopathy.
📊

Pathogenic or Likely Pathogenic variant detected

Confirms the diagnosis of DAG1-related limb-girdle muscular dystrophy type C9; autosomal recessive inheritance (biallelic variants) or dominant (monoallelic variant) depending on variant; genetic counselling recommended.

📊

Variant of Uncertain Significance (VUS)

A DNA variant was found but its significance is unknown. Additional testing of family members or further molecular studies may help determine the clinical impact.

📊

No pathogenic variant detected

No disease-causing mutation was identified in the coding and splice regions of DAG1. This does not exclude a diagnosis if strong clinical suspicion remains; consider a broader muscular dystrophy panel.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or your child have progressive limb muscle weakness, elevated CK, or a family history of muscular dystrophy. Genetic testing and counseling should be considered for diagnosis, carrier detection, and family planning.

Limitations

  • This NGS assay detects single nucleotide variants and small insertions/deletions in the coding regions and splice sites of DAG1; large deletions/duplications may not be detected unless specified
  • A negative test does not exclude a diagnosis of muscular dystrophy-dystroglycanopathy if clinical suspicion remains
  • Variants of uncertain significance may require additional family testing and functional studies
  • The test does not assess all genes associated with limb-girdle muscular dystrophy; comprehensive panel testing is available separately

Risks & Considerations

  • Minimal pain or bruising at the blood draw site
  • Very small risk of infection or bleeding
  • Peripheral nerve injury is extremely rare

Interfering Factors

  • Poor sample quality or DNA degradation
  • Maternal cell contamination in prenatal samples
  • Presence of pseudogenes interfering with gene mapping
  • Rare deep-intronic variants not covered by standard NGS assay

Compare With Similar Tests

TestDAG1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 NGS Genetic TestMuscular Dystrophy Comprehensive NGS PanelCreatine Kinase (CK) Blood TestMuscle Biopsy
ComparisonDAG1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 NGS Genetic Test

Frequently Asked Questions

What is the DAG1 gene muscular dystrophy-dystroglycanopathy type C9 genetic test?
This test uses next-generation sequencing to detect mutations in the DAG1 gene, which cause a form of limb-girdle muscular dystrophy known as type C9 (LGMD-DGC9). It helps confirm the genetic cause of the condition.
What are the symptoms of DAG1-related limb-girdle muscular dystrophy?
Common symptoms include progressive muscle weakness in the hips and shoulders, difficulty walking, running, climbing stairs, frequent falls, contractures, and sometimes respiratory complications in severe cases.
What is the cost of this NGS genetic test at DNA Labs India?
The DAG1 gene type C9 NGS genetic test costs Rs 20000, which includes free home sample collection in many cities. The final report is provided in 3-4 weeks.
What type of sample is required for this test?
The test can be performed on whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. Your sample type can be chosen based on convenience and provider preference.
Do I need to fast before this genetic test?
No, fasting is not required. You can eat and drink normally before providing a blood sample.
How long will my results take?
The turnaround time is 3 to 4 weeks after the sample reaches the laboratory. Reports are made available online, via email, or WhatsApp as per your preference.
Will this test definitively tell me if I have LGMD type C9?
If a pathogenic or likely pathogenic variant in the DAG1 gene is identified, it confirms the diagnosis. However, if no variant is found, muscular dystrophy cannot be completely excluded and further genetic/muscle testing may be needed.
Why is genetic counselling important for this test?
A genetic counselling session helps you understand the inheritance pattern, implications for family members, risks of recurrence, and the emotional and medical impact of the test result before and after testing.
Can this test detect carriers of DAG1 mutations?
Yes, the NGS test can identify heterozygous carriers of a single pathogenic DAG1 variant. Carrier status is particularly important for family planning when both parents are carriers.
Is the test suitable for children?
Yes, the test is recommended for individuals of all ages who present with symptoms or have a family history of LGMD-DGC9. For minors, parental consent is required.
Can I book this test if I live outside major cities?
DNA Labs India provides free home sample collection across major cities in India. For remote locations, outstation sample collection or self-collection using FTA card can be arranged; please check availability.
How should the samples be stored before sending?
Whole blood should be kept at room temperature and shipped within 24-48 hours. FTA cards should be dried and stored at room temperature. Avoid freezing whole blood. Extracted DNA should be frozen at -20°C.
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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