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SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test

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SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test

Short Name: SYNE1 Gene (EDMD4) NGS Test

Also known as: SYNE1 EDMD4 Genetic Test, Emery-Dreifuss muscular dystrophy type 4 NGS panel, Nesprin-1 gene test

SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood (EDTA) or Extracted DNA or One drop blood on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks after sample receipt.. 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

This test is intended to confirm a clinical diagnosis of Emery-Dreifuss muscular dystrophy type 4 by identifying disease-causing sequence variants in the SYNE1 gene. It also supports carrier testing, cascade screening in at-risk family members, and helps guide cardiac monitoring and genetic counselling.

Test Code
4044
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood (EDTA) or Extracted DNA or One drop blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The physician or genetic counsellor will take a clinical history and draw a pedigree chart. Please bring any previous muscle biopsy, EMG, echocardiography, or family genetic reports if available.

Method: Peripheral blood draw / FTA card collection

Step 2

Laboratory Analysis

A routine peripheral blood sample will be collected in an EDTA vacutainer. Alternatively, 3 to 5 blood spots may be collected on an FTA card for home sample collection.

Step 3

Report Delivery

No restrictions are required after sample collection. The sample will be transported to the laboratory using appropriate cold-chain or FTA card packaging.

Timeline: Reports are delivered in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Before the test, a genetic counselling session is recommended to discuss benefits, limitations, and possible results. No dietary restrictions are needed.
2
During the Test:The test involves a simple blood sample collection or FTA card blood spot collection. The sample is sent to the laboratory for DNA extraction and NGS library preparation.
3
After the Test:After testing, the laboratory will release a clinical genetic report within 3 to 4 weeks. The patient may be asked to have a post-test genetic counselling discussion to understand the results.

About This Test

Who Should Get This Test

This test is intended to confirm a clinical diagnosis of Emery-Dreifuss muscular dystrophy type 4 by identifying disease-causing sequence variants in the SYNE1 gene. It also supports carrier testing, cascade screening in at-risk family members, and helps guide cardiac monitoring and genetic counselling.

How to Prepare

  • Collect 2 mL of peripheral blood in an EDTA vacutainer.
  • If using FTA card, place 3-5 well-spaced blood spots on the card.
  • Label the sample with the patient's full name, date of birth and collection date.
  • Complete the clinical history form and signed informed consent.
  • Dispatch the sample to the laboratory as per DNA Labs India instructions.

Doctor's Notes

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

"Genetic confirmation of SYNE1-related EDMD is important for cardiac surveillance, timely management, and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood (EDTA) or Extracted DNA or One drop blood on FTA Card
Sample Volume2 mL blood / 3-5 FTA spots
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral blood draw / FTA card collection

Sample Stability

EDTA blood at room temperatureUp to 72 hours
EDTA blood refrigeratedUp to 7 days
FTA cardStable for several months when dry
Sample Rejection Criteria:
  • Clotted or visibly hemolyzed blood sample
  • Incorrectly labelled or unlabelled sample
  • Insufficient blood volume
  • FTA card with fewer than 3 blood spots
  • Extracted DNA showing degradation on quality control

Understanding Your Results

The clinical report will classify variants according to the ACMG/AMP guidelines. Interpretations are based on the sequence changes detected in the SYNE1 gene and available clinical information.
📊

Positive

A pathogenic or likely pathogenic variant in SYNE1 has been identified, confirming the clinical diagnosis of SYNE1-related EDMD4.

📊

Negative

No disease-causing variant was identified in the SYNE1 gene. If clinical suspicion remains, other EDMD genes or a broader neuromuscular panel should be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but current evidence is insufficient to classify it as pathogenic or benign. Family segregation studies and further testing may be helpful.

⚠️ When to Consult a Doctor:

Please consult a neurologist or clinical geneticist if you or your family member have progressive muscle weakness, joint contractures, cardiac conduction block, cardiomyopathy, or a known family history of Emery-Dreifuss muscular dystrophy.

Limitations

  • ⚠This test analyses only the SYNE1 gene and does not include other EDMD genes such as LMNA, EMD, SYNE2, or FHL1.
  • ⚠Targeted NGS may not detect large deletions/duplications unless CNV analysis is included.
  • ⚠A variant of uncertain significance may be identified; further family studies may be required.
  • ⚠A negative result does not exclude all causes of Emery-Dreifuss muscular dystrophy.
  • ⚠The test cannot accurately predict age of onset or severity of symptoms.

Risks & Considerations

  • ●Mild pain or bruising at the venipuncture site
  • ●Rare local infection or bleeding
  • ●Psychological impact of genetic results
  • ●Variant of uncertain significance may require additional family studies

Interfering Factors

  • ●Inadequate quantity or degraded DNA
  • ●Clotted or hemolyzed blood samples
  • ●Sample contamination or sample mix-up
  • ●Mutations in deep intronic or regulatory regions not covered by targeted NGS
  • ●Large structural rearrangements or copy number variants may not be reliably detected by sequencing-only NGS
  • ●Homopolymer regions that may affect sequencing quality

Compare With Similar Tests

TestSYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test
ComparisonSYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test

Frequently Asked Questions

What is Emery-Dreifuss muscular dystrophy type 4?
Emery-Dreifuss muscular dystrophy type 4 is a rare inherited condition caused by variants in the SYNE1 gene. It typically presents with muscle weakness, joint contractures, and cardiac conduction defects.
What does the SYNE1 gene NGS test detect?
This test detects small sequence changes, such as single nucleotide variants and small insertions/deletions, in the coding exons and splice-site regions of the SYNE1 gene that are associated with EDMD4.
Who should consider this test?
People with symptoms suggestive of Emery-Dreifuss muscular dystrophy, individuals with a family history of SYNE1-related EDMD, and patients needing molecular confirmation of a clinical diagnosis can consider this test.
What sample is accepted?
Blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card is accepted for this NGS genetic test.
Is fasting required for this test?
No, fasting is not required for the SYNE1 gene EDMD4 NGS genetic test.
How is genetic counselling done before the test?
A genetic counselling session is conducted to draw a pedigree chart of affected family members and to discuss the risks, benefits, and implications of genetic testing.
What is the turnaround time for reports?
The clinical genetic report is generally available within 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of this test?
The cost of the SYNE1 gene Emery-Dreifuss muscular dystrophy type 4 NGS genetic test at DNA Labs India is Rs 20000.0, which includes home sample collection in eligible cities.
Does DNA Labs India provide raw data?
Yes, DNA Labs India provides raw data files including FASTQ and VCF along with the clinical report, allowing transparency and independent interpretation.
Can a negative result rule out Emery-Dreifuss muscular dystrophy?
A negative result in the SYNE1 gene does not completely rule out EDMD, because variants in other genes such as LMNA, EMD, SYNE2, or FHL1 may also cause EDMD.
How are variants of uncertain significance reported?
If a variant of uncertain significance is found, it is reported as such. The report may recommend family segregation studies or additional testing to clarify its role.
Can this test guide cardiac surveillance?
Yes, a confirmed SYNE1-related EDMD diagnosis supports regular cardiac evaluation, including ECG and echocardiography, to detect conduction blocks or cardiomyopathy early.
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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