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SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 NGS Genetic Test

Short Name: SYNE2 EDMD5 NGS Test

Also known as: SYNE2-Related EDMD5 Genetic Test, Nesprin-2 Gene Mutation Test, Emery-Dreifuss Muscular Dystrophy Type 5 NGS Test

SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 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 Reports are typically delivered within 3 to 4 weeks of sample receipt.. Free home collection in 300+ cities across India.

GeneticAll Ages🏠 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 purpose of this test is to confirm or exclude SYNE2-related Emery-Dreifuss muscular dystrophy type 5. It helps physicians establish a molecular diagnosis, estimate recurrence risk, guide cardiac monitoring, and offer targeted testing to at-risk family members.

Test Code
4050
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. Please bring the doctor's referral, clinical history, and any previous cardiac or neurological evaluation records if available.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A small blood sample will be collected by venipuncture into an EDTA tube. If FTA card is used, a single drop of blood is spotted onto the marked circle.

Step 3

Report Delivery

There are no activity restrictions. The sample is transported to the laboratory at ambient temperature for processing.

Timeline: Reports are typically delivered within 3 to 4 weeks of sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. A pre-test genetic counselling session may be arranged to discuss the purpose of the test and to draw a pedigree chart.
2
During the Test:The NGS test is performed on the submitted sample. The laboratory will extract DNA, sequence the SYNE2 gene, and analyze variants using validated bioinformatics pipelines.
3
After the Test:After the report is released, you will receive an online copy. A genetic counsellor or physician will explain the result and discuss next steps such as family screening or cardiac surveillance.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or exclude SYNE2-related Emery-Dreifuss muscular dystrophy type 5. It helps physicians establish a molecular diagnosis, estimate recurrence risk, guide cardiac monitoring, and offer targeted testing to at-risk family members.

How to Prepare

  • Provide a valid doctor's referral and clinical history.
  • Blood sample should be collected in an EDTA tube.
  • FTA card sample: one drop of blood on the marked circle and air-dry.
  • Label the sample with patient name, date of birth, and collection date.

Doctor's Notes

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

"Confirming a SYNE2 variant is critical because cardiac complications may be the first presentation, and early rhythm monitoring or cardiology referral can be life-saving."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA tube / FTA card / extracted DNA vial
Collection MethodVenipuncture or FTA card spot

Sample Stability

Whole blood in EDTA: 24 hours at room temperature; if delayed, store at 2-8°C.
Extracted DNA: stable at -20°C for several months.
FTA card: stable at room temperature for long-term storage.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Unlabelled or mislabelled sample
  • Sample received in an incorrect anticoagulant tube
  • Leaking or damaged sample container

Understanding Your Results

The genetic test report should be interpreted by a qualified clinical geneticist in the context of the patient's clinical symptoms, family history, and other investigations. A molecular diagnosis should always be accompanied by genetic counselling.
📊

No pathogenic variant identified

No molecular evidence of SYNE2-related EDMD5 in the tested individual. Clinical suspicion should be re-evaluated if symptoms are strongly suggestive.

📊

Pathogenic or likely pathogenic variant detected

Molecular confirmation of SYNE2-related EDMD5. Genetic counselling and cardiac surveillance are recommended.

📊

Variant of uncertain significance (VUS) detected

The variant cannot be classified as pathogenic or benign at this time. Additional family studies or functional evidence may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you have unexplained muscle weakness, joint contractures, scoliosis, cardiomyopathy, or a family history of Emery-Dreifuss muscular dystrophy.

Limitations

  • ⚠This test is targeted to SYNE2 and does not rule out variants in other EDMD-related genes.
  • ⚠NGS may not detect large deletions, duplications, or deep intronic variants unless specific bioinformatics analysis is used.
  • ⚠A variant of uncertain significance may require additional family studies for reclassification.
  • ⚠Negative result does not exclude non-genetic causes of muscle disease.

Risks & Considerations

  • ●Minimal risk of pain or bruising at the venipuncture site
  • ●Dizziness or light-headedness during blood collection
  • ●No significant medical risks are associated with this genetic test

Interfering Factors

  • ●Low DNA quality or quantity
  • ●Sample contamination with another person's DNA
  • ●Incomplete coverage of highly repetitive gene regions
  • ●Complex structural rearrangements not reliably detected by standard NGS

Frequently Asked Questions

What is the cost of the SYNE2 EDMD5 NGS genetic test at DNA Labs India?
The cost is Rs 20000. This includes NGS sequencing of the SYNE2 gene, clinical report, and raw data files (FASTQ, VCF).
What is SYNE2 Emery-Dreifuss muscular dystrophy type 5?
EDMD5 is a rare inherited neuromuscular disorder caused by variants in the SYNE2 gene. It leads to muscle weakness, joint contractures, and cardiac problems.
What type of sample is required for this test?
Blood (EDTA), extracted DNA, or one drop of blood on an FTA card can be submitted for the test.
How long does it take to get the report?
The report is usually ready in 3 to 4 weeks after the sample reaches the laboratory.
Is fasting required before the test?
No, fasting is not required. The test can be done at ambient room temperature.
Can this test identify all types of Emery-Dreifuss muscular dystrophy?
No, this test specifically analyzes SYNE2 gene changes associated with EDMD type 5. If other genes are suspected, a comprehensive EDMD panel should be considered.
What technology is used in this test?
The test uses next-generation sequencing (NGS) technology to sequence the SYNE2 gene and detect pathogenic variants.
Will I receive raw data with my report?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report.
Is genetic counseling available with the test?
A pre-test genetic counseling session is included to draw a pedigree chart and review family history.
Can my family members be tested for the same SYNE2 variant?
Yes, once a familial SYNE2 variant is identified, at-risk relatives can undergo targeted variant testing to clarify their status.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India when booking online for this test.
What do I need to bring for the test?
Please bring a valid doctor's referral, clinical history, and any prior cardiac or neurological evaluations if available.
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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