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FHL1 Gene Emery-Dreifuss muscular dystrophy type 6 NGS Genetic Test

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FHL1 Gene Emery-Dreifuss muscular dystrophy type 6 NGS Genetic Test

Short Name: FHL1 EDMD6 NGS

Also known as: FHL1 Gene Test for EDMD6, FHL1 Mutation Analysis, FHL1 Gene Sequencing, Emery-Dreifuss Muscular Dystrophy Type 6 Genetic Test

FHL1 Gene Emery-Dreifuss muscular dystrophy type 6 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 delivered electronically via email or WhatsApp, and are also available on the patient portal within 3 to 4 weeks from 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

The primary purpose of this test is to detect disease-causing mutations in the FHL1 gene associated with Emery-Dreifuss Muscular Dystrophy Type 6. It aids in confirming a clinical diagnosis, differentiating EDMD6 from other muscular dystrophies, identifying asymptomatic carriers in the family, and facilitating early cardiological surveillance to prevent life-threatening complications.

Test Code
4047
CPT Code
81407
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered electronically via email or WhatsApp, and are also available on the patient portal within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Fasting is not necessary. Please inform the laboratory if you have had a blood transfusion or bone marrow transplant in the past month.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood will be drawn from a vein in the arm using a sterile needle. If using an FTA card, a drop of blood will be applied to the card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately. Minor bruising at the puncture site is possible and resolves on its own.

Timeline: Reports are delivered electronically via email or WhatsApp, and are also available on the patient portal within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Prior to testing, you may need to provide a detailed family history. A genetic counselor will help draw a pedigree chart. Blood or FTA card sample will be collected from you.
2
During the Test:The test involves obtaining a small blood sample or a spot of blood on a card. You may feel a slight prick when the needle is inserted.
3
After the Test:You can leave immediately and resume normal activities. The laboratory will process the sample and provide results in about 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this test is to detect disease-causing mutations in the FHL1 gene associated with Emery-Dreifuss Muscular Dystrophy Type 6. It aids in confirming a clinical diagnosis, differentiating EDMD6 from other muscular dystrophies, identifying asymptomatic carriers in the family, and facilitating early cardiological surveillance to prevent life-threatening complications.

How to Prepare

  • Use an EDTA-containing vacutainer for whole blood collection.
  • For FTA card, apply a single drop of blood to each designated circle and allow it to air dry for at least one hour.
  • Ensure the sample is labeled with the patient's full name and date of birth.
  • Store blood sample at 2-8°C if delivery is delayed; do not freeze.
  • FTA cards can be stored at room temperature in a sealed bag with desiccant.

Doctor's Notes

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

"Genetic testing is recommended for individuals presenting with clinical features of Emery-Dreifuss muscular dystrophy, to confirm the diagnosis and facilitate genetic counseling for the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or 1 drop blood on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at 2-8°C.
FTA card blood spot: stable for years at room temperature.
Extracted DNA: stable for months at -20°C.
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • FTA card with contaminated or insufficient blood spot
  • Sample tube without proper labeling
  • Sample stored at extreme temperatures for prolonged periods
  • Inadequate specimen volume

Understanding Your Results

The result of this NGS genetic test is reported as either negative, positive, or variant of uncertain significance. A negative result means no pathogenic FHL1 mutation was identified. A positive result indicates detection of a pathogenic or likely pathogenic variant, confirming the diagnosis of EDMD6.
Negative: No FHL1 pathogenic variant detected. The diagnosis is less likely but not excluded if clinical features are strongly suggestive.
Positive: Pathogenic variant identified. Confirms EDMD6 clinical diagnosis and enables predictive testing of at-risk relatives.
VUS: Variant of uncertain significance. Clinical significance cannot be determined; additional family studies or functional assays may be recommended.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member present with muscle weakness, early joint contractures, cardiac conduction abnormalities, or a confirmed family history of EDMD6. Early diagnosis allows appropriate cardiac surveillance and management.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or deep intronic variants with certainty.
  • ⚠Some identified variants may be of uncertain clinical significance and require further family segregation studies.
  • ⚠A negative result does not entirely exclude EDMD6 if the clinical suspicion is high; additional testing may be recommended.
  • ⚠The test is limited to mutations in the FHL1 gene and will not detect other genes associated with EDMD.

Risks & Considerations

  • ●Minor pain or bruising at the venipuncture site
  • ●Dizziness or fainting during blood collection
  • ●Risk of infection is extremely low and minimized by sterile technique

Interfering Factors

  • ●Allogeneic bone marrow transplantation may result in mixed DNA profiles and complicate interpretation.
  • ●Recent blood transfusion can dilute the patient's own DNA and potentially affect results.
  • ●Hemolysis or clotting of the blood sample may lead to insufficient DNA yield.
  • ●Incorrect sample labeling or contamination with foreign DNA.

Compare With Similar Tests

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Frequently Asked Questions

What is the FHL1 gene?
The FHL1 gene provides instructions for making four-and-a-half LIM domain protein 1, which is important for muscle development and maintenance.
What is Emery-Dreifuss Muscular Dystrophy Type 6?
EDMD6 is a form of Emery-Dreifuss muscular dystrophy caused by mutations in the FHL1 gene. It leads to muscle weakness, joint contractures, and cardiac problems.
What symptoms can EDMD6 cause?
Common symptoms include weakness in the upper arms, shoulders, and lower legs, muscle wasting, stiff joints, heart rhythm abnormalities, and scoliosis.
How is EDMD6 diagnosed?
It is diagnosed through genetic testing. This NGS test can identify mutations in the FHL1 gene, along with clinical examination and cardiac evaluation.
What is NGS genetic testing?
NGS is a high-throughput sequencing technology that analyzes multiple genes or gene regions simultaneously, providing rapid and accurate detection of mutations.
What is the cost of the FHL1 gene test in India?
The cost is INR 20,000 at DNA Labs India, which includes home sample collection and a comprehensive report.
Do I need to fast before giving a blood sample for this test?
No, fasting is not required. You can give a blood sample at any time of the day.
How long does it take to get the test report?
The turnaround time is typically 3 to 4 weeks from the date of sample receipt.
Can I have the sample collected at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India. You can book online and our phlebotomist will visit you.
What sample types are accepted?
We accept whole blood in EDTA, extracted DNA, or a single drop of blood on an FTA card.
What does a positive result mean?
A positive result means a pathogenic variant in the FHL1 gene has been identified, confirming the clinical diagnosis of EDMD6.
What if the result is negative?
A negative result means no pathogenic FHL1 variant was found. However, it does not completely rule out EDMD6 if clinical features are strong; other genes may be responsible.
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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