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EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test

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EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test

Short Name: EMD Gene EDMD1 NGS Test

Also known as: EDMD1 NGS Test, Emerin Gene Mutation Analysis, EMD Full Gene Sequencing, Emery-Dreifuss Muscular Dystrophy Type 1 Gene Test

EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (confirmation) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory. Additional family studies may require more time.. 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 is a single-gene NGS test to identify pathogenic variants in EMD associated with Emery-Dreifuss muscular dystrophy type 1. It helps in diagnosis, carrier detection, reproductive planning, and early management of cardiac and neuromuscular complications.

Test Code
4043
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory. Additional family studies may require more time.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing (confirmation)
Step 1

Sample Collection

No fasting is needed. A genetic counselling session is recommended before testing to discuss the risks, benefits, and implications of the genetic result.

Method: Venipuncture / FTA blood spot / saliva collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect about 2-3 ml of blood in an EDTA tube. If using an FTA card, a spot of blood will be applied and allowed to dry.

Step 3

Report Delivery

You may leave immediately after sample collection. No specific precautions are required.

Timeline: Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory. Additional family studies may require more time.

Patient Instructions

1
Before the Test:No fasting or special preparation is needed. Please gather your clinical notes, previous test results, and family history before the genetic counselling session.
2
During the Test:The sample collection is simple. For blood collection, a needle is inserted into a vein and a small amount of blood is withdrawn. For FTA card, a finger-prick is used.
3
After the Test:After collection, no downtime is needed. You may resume your regular activities immediately. The laboratory will process the sample for NGS analysis.

About This Test

Who Should Get This Test

This is a single-gene NGS test to identify pathogenic variants in EMD associated with Emery-Dreifuss muscular dystrophy type 1. It helps in diagnosis, carrier detection, reproductive planning, and early management of cardiac and neuromuscular complications.

How to Prepare

  • Use an EDTA vacutainer for whole blood collection.
  • If using an FTA card, apply 4 to 5 blood spots and allow them to dry.
  • Keep the sample at ambient room temperature while transporting to the laboratory.
  • Label the sample clearly with patient name, date of birth, and collection date.

Doctor's Notes

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

"Emerin mutations are X-linked; therefore, a woman with a positive result has a 50% chance of transmitting the variant to each pregnancy. Early cardiology surveillance reduces arrhythmic mortality."

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 blood or 1 FTA spot / 2 μg DNA
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodVenipuncture / FTA blood spot / saliva collection

Sample Stability

Whole blood in EDTA: stable up to 72 hours at 4°C
FTA card: stable at room temperature for years
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient blood volume or DNA quantity
  • Mislabeled sample or missing patient identifier
  • Sample received in a non-sterile or leaking container
  • Improperly dried FTA card or frozen blood sample

Understanding Your Results

This NGS test sequences the EMD gene to detect disease-causing variants associated with Emery-Dreifuss muscular dystrophy type 1. Results should be interpreted in the context of clinical presentation, family history, and cardiac evaluation. Variants are classified according to ACMG guidelines.
📊

Positive (pathogenic or likely pathogenic variant)

Confirms the diagnosis of EDMD1 and can guide cardiac surveillance, family screening, and reproductive planning.

📊

Negative (no pathogenic variant detected)

Lowers the likelihood of EDMD1, but does not exclude other forms of muscular dystrophy. Further genetic testing may be needed.

📊

Variant of uncertain significance (VUS)

A genetic change was found, but its effect on health is unclear. Additional family studies and clinical evaluation are recommended.

⚠️ When to Consult a Doctor:

If you or a family member has muscle weakness, contractures, palpitations, or fainting episodes, see a neurologist or cardiologist promptly. Genetic counseling is strongly advised before and after this test.

Limitations

  • ⚠This single-gene test does not detect large deletions/duplications involving EMD by standard NGS unless CNV analysis is included.
  • ⚠A negative EMD result does not rule out other genetic causes of Emery-Dreifuss muscular dystrophy such as LMNA.
  • ⚠Variants of uncertain significance (VUS) may be reported and may require further family studies.
  • ⚠Mosaic variants below the analytical sensitivity may not be detected.
  • ⚠This test does not assess cardiac function; clinical cardiac screening is required.

Risks & Considerations

  • ●Minor pain, bruising, or bleeding at the venipuncture site
  • ●Rare risk of infection at the puncture site
  • ●Psychological or emotional impact of genetic test results
  • ●Potential implications for family members and risk of genetic discrimination

Interfering Factors

  • ●Poor DNA quality or quantity can affect NGS results
  • ●Maternal cell contamination may cause false interpretation
  • ●Hemolysis or bacterial contamination of blood sample
  • ●Inappropriate sample storage at high temperatures

Frequently Asked Questions

What is the EMD gene Emery-Dreifuss muscular dystrophy type 1 NGS genetic test?
This test looks for disease-causing mutations in the EMD gene using next-generation sequencing. It helps confirm a diagnosis of Emery-Dreifuss muscular dystrophy type 1.
Who should get this test?
People with signs of muscular dystrophy, contractures, or heart rhythm problems, and also first-degree relatives of a confirmed EDMD1 patient and women at risk of being carriers.
What sample is needed?
A blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card is required.
Do I need to fast before this test?
No, fasting is not required for this genetic test.
How long will the test take?
The report is usually available in 3 to 4 weeks.
What conditions does this test help diagnose?
This test helps diagnose Emery-Dreifuss muscular dystrophy type 1, an X-linked recessive disorder affecting skeletal muscles and the heart.
Can this test detect all types of Emery-Dreifuss muscular dystrophy?
No. EDMD can also be caused by mutations in the LMNA gene. A doctor may order a panel or LMNA-specific test if EMD testing is negative.
What does a negative result mean?
A negative result lowers the likelihood of EDMD1, but it does not exclude all muscular dystrophies. You should discuss the result with your doctor or genetic counsellor.
What is a variant of uncertain significance?
A variant of uncertain significance is a genetic change whose effect on health is unclear. Further family studies and clinical correlation are needed.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in most major Indian cities.
What is the cost of the test in India?
The test costs approximately INR 20,000 at DNA Labs India.
Are there any risks?
The blood draw may cause minor pain or bruising. Genetic results may also have emotional and family implications, so genetic counselling is recommended.
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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