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POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic Test

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POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic Test

Short Name: POMGNT1 CMD-DG Type A3 NGS Test

Also known as: POMGNT1 Gene Sequencing, MDDGA3 Genetic Test, Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 DNA Test, POMGNT1 NGS Test

POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing validation as required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To confirm or exclude a clinical suspicion of congenital muscular dystrophy-dystroglycanopathy type A3 by identifying pathogenic variants in the POMGNT1 gene, enabling early diagnosis, family counseling, and personalized care planning.

Test Code
4361
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing validation as required
Step 1

Sample Collection

No fasting is required. Inform your doctor about any medications, supplements, and relevant clinical symptoms. Genetic counseling before testing is recommended.

Method: Peripheral venipuncture or finger-prick FTA spot

Step 2

Laboratory Analysis

A small amount of blood will be drawn from a vein in your arm. If an FTA card is used, a finger-prick blood spot will be collected.

Step 3

Report Delivery

You may resume normal activities immediately. Pressure may be applied to the puncture site to reduce the risk of bruising.

Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. However, pretest genetic counseling is advised to understand the benefits, risks, and limitations of the test.
2
During the Test:A blood sample or FTA spot is collected. The sample is sent to the molecular genetics laboratory for DNA extraction, NGS library preparation, sequencing, and bioinformatics analysis.
3
After the Test:Once testing is complete, the clinical report and raw data files are shared with the patient and the referring physician. Follow-up genetic counseling is recommended.

About This Test

Who Should Get This Test

To confirm or exclude a clinical suspicion of congenital muscular dystrophy-dystroglycanopathy type A3 by identifying pathogenic variants in the POMGNT1 gene, enabling early diagnosis, family counseling, and personalized care planning.

How to Prepare

  • Complete the test request form and informed consent accurately
  • Ensure patient identity is verified at sample collection
  • Do not freeze whole blood samples
  • Ship samples packing in accordance with the laboratory courier guidelines

Doctor's Notes

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

"Early genetic confirmation in families at risk can enable informed reproductive planning and early intervention for affected children."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL whole blood / 5-10 µg extracted DNA / 1 FTA blood spot
ContainerLavender top EDTA tube / FTA Card / DNA vial
Collection MethodPeripheral venipuncture or finger-prick FTA spot

Sample Stability

Whole blood (EDTA): 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient DNA quantity or poor DNA quality
  • Mislabeled or unaccompanied sample
  • Expired collection tube

Understanding Your Results

Genetic test results must be interpreted by a qualified clinical geneticist in the context of the patient's clinical phenotype and family history.
Positive: A pathogenic or likely pathogenic variant in POMGNT1 is detected, consistent with congenital muscular dystrophy-dystroglycanopathy type A3.
Negative: No pathogenic variant is detected in the POMGNT1 gene; other genetic causes may need to be considered.
Variant of uncertain significance: A DNA sequence change is found but its clinical significance is not known; parental testing and further segregation analysis may be helpful.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or pediatric neurologist if you notice early muscle weakness, hypotonia, delayed developmental milestones, seizures, eye abnormalities, or a family history suggestive of this disorder.

Risks & Considerations

  • ●Minimal pain or bruising at the venipuncture site
  • ●Slight bleeding after blood draw
  • ●Rare risk of local infection

Interfering Factors

  • ●Contamination of blood sample with anticoagulants other than EDTA
  • ●Degraded DNA due to prolonged storage or high temperature
  • ●Sample mix-up or mislabelling
  • ●Maternal cell contamination in prenatal samples

Compare With Similar Tests

TestPOMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic TestTargeted POMGNT1 NGS TestCongenital Muscular Dystrophy Gene PanelWhole Exome Sequencing
ComparisonPOMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic TestAnalyzes only the POMGNT1 gene; appropriate when clinical findings strongly suggest MDDG type A3.Analyzes multiple genes associated with congenital muscular dystrophies, including POMGNT1.Covers the exons of most genes; offers broader diagnostic coverage but may identify incidental findings.

Frequently Asked Questions

What is the POMGNT1 gene?
The POMGNT1 gene provides instructions for making an enzyme that is important for the normal glycosylation of alpha-dystroglycan. Pathogenic variants in this gene cause congenital muscular dystrophy-dystroglycanopathy type A3 with brain and eye abnormalities.
What does this test detect?
This NGS test detects pathogenic variants in the POMGNT1 gene that are associated with congenital muscular dystrophy-dystroglycanopathy type A3.
Which sample is required for the test?
A blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card is accepted for this test.
Is fasting required before sample collection?
No, fasting is not required for this genetic test. You can eat and drink normally before collection.
How much does the POMGNT1 NGS genetic test cost in India?
The cost of this test at DNA Labs India is INR 20,000. Free home sample collection is available for online bookings in many cities.
How long will the reports take?
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
Can this test diagnose all forms of muscular dystrophy?
No. This is a targeted gene test for POMGNT1-related muscular dystrophy-dystroglycanopathy type A3. A broader congenital muscular dystrophy panel is needed to evaluate other genes if the diagnosis is unclear.
Is genetic counseling necessary before this test?
Yes, pretest genetic counseling is recommended to clarify the purpose, limitations, and possible outcomes of testing and to draw a family pedigree chart.
What are the possible test results?
Results may identify a pathogenic or likely pathogenic variant, no pathogenic variant, or a variant of uncertain clinical significance. Your clinical geneticist will explain the implications in detail.
Will DNA Labs India provide raw data files?
Yes, DNA Labs India shares raw data files such as FASTQ and VCF along with the conclusive clinical report for this test.
Can this test be used for family planning?
If a pathogenic variant is identified, it can be used for recurrence risk assessment and genetic counseling. Prenatal or preimplantation genetic testing may be possible in subsequent pregnancies with specialist guidance.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across multiple cities in India.
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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