CNBP Gene Myotonic dystrophy type 2 NGS Genetic Test
Short Name: CNBP DM2 NGS Test
Also known as: DM2 Genetic Test, CNBP Gene Repeat Expansion Test, Myotonic Dystrophy Type 2 DNA Test
CNBP Gene Myotonic dystrophy type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / Dried Blood Spot (FTA Card) samples. Results in Reports are typically delivered within 3 to 4 weeks after the sample reaches the DNA Labs India laboratory. Turnaround time may vary depending on sample quality and accessioning.. 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 CNBP gene NGS genetic test is performed to identify pathogenic mutations or repeat expansions in the CNBP gene that cause Myotonic Dystrophy Type 2 (DM2). It is used to confirm a clinical diagnosis, support differential diagnosis, and provide essential information for genetic counseling, prognosis, and family planning. Early and accurate genetic testing enables appropriate clinical surveillance and management of multi-systemic complications associated with DM2.
- Test Code
- 4393
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / Dried Blood Spot (FTA Card)
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the DNA Labs India laboratory. Turnaround time may vary depending on sample quality and accessioning.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required for this test. Please bring any relevant clinical records, a doctor's prescription (if available), and a complete family history. A genetic counseling session is recommended to draw a pedigree chart of affected family members.
Method: Venipuncture / FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a small blood sample from a vein in your arm. If using an FTA card, a few drops of blood will be placed onto the card. The entire procedure takes 5-10 minutes.
Report Delivery
You can resume your normal activities immediately after sample collection. There are no specific restrictions following this test.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the DNA Labs India laboratory. Turnaround time may vary depending on sample quality and accessioning.
Patient Instructions
About This Test
Who Should Get This Test
The CNBP gene NGS genetic test is performed to identify pathogenic mutations or repeat expansions in the CNBP gene that cause Myotonic Dystrophy Type 2 (DM2). It is used to confirm a clinical diagnosis, support differential diagnosis, and provide essential information for genetic counseling, prognosis, and family planning. Early and accurate genetic testing enables appropriate clinical surveillance and management of multi-systemic complications associated with DM2.
How to Prepare
- No fasting required.
- No special dietary restrictions needed.
- Please provide a valid ID and any relevant clinical history.
- Sample must be labeled with the correct patient identifier.
- FTA card samples must be dried completely before packaging.
- Inform the lab if you have had a recent blood transfusion.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for myotonic dystrophy type 2 is essential for accurate diagnosis, genetic counseling, and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Insufficient sample quantity
- Sample received in damaged or leaking container
- Missing clinical history or prescription
Understanding Your Results
Positive
Negative
Variant of Uncertain Significance (VUS)
If you or your loved one are experiencing symptoms such as muscle weakness, myotonia, early-onset cataracts, cardiac conduction issues, or have a family history of myotonic dystrophy type 2, it is advisable to consult a neurologist or clinical geneticist for evaluation and possible genetic testing.
Limitations
- ⚠NGS may not detect extremely large repeat expansions typical of DM2; additional repeat-primed PCR or Southern blot testing may be required.
- ⚠This test does not detect mutations in genes associated with Myotonic Dystrophy Type 1 (DMPK) or other myopathies.
- ⚠A negative result does not completely rule out DM2; if clinical suspicion persists, further testing is recommended.
- ⚠Variants of uncertain significance (VUS) may be identified, requiring additional family studies.
- ⚠Results should always be interpreted in the context of clinical findings and genetic counseling.
Risks & Considerations
- ●Minimal risk of pain, bruising, or bleeding at the venipuncture site
- ●Slight possibility of dizziness or fainting during blood draw
- ●No significant medical risks associated with FTA card sampling
Interfering Factors
- ●Recent blood transfusion (within 3 months)
- ●Bone marrow or stem cell transplantation
- ●Maternal cell contamination during prenatal sampling
- ●Degraded or contaminated DNA
- ●Clinically significant variants in genes other than CNBP
Compare With Similar Tests
| Test | CNBP Gene Myotonic dystrophy type 2 NGS Genetic Test | DMPK Gene Myotonic Dystrophy Type 1 NGS Genetic Test | Muscular Dystrophy Comprehensive NGS Panel | Myotonia Congenita Genetic Test |
|---|---|---|---|---|
| Comparison | CNBP Gene Myotonic dystrophy type 2 NGS Genetic Test |
Frequently Asked Questions
What is the CNBP gene test for?
How much does the test cost?
What sample is required?
Do I need to fast before the test?
How long will it take to get the report?
How is the test performed?
Can this test detect myotonic dystrophy type 1 (DM1)?
Is a doctor's prescription required?
What is genetic counseling?
Are there any risks involved?
Can home sample collection be arranged?
How will I receive my report?
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