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GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic Test

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GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic Test

Short Name: GLE1 LCCS1 NGS Test

Also known as: LCCS1, GLE1-related arthrogryposis, Lethal congenital contracture syndrome 1

GLE1 Gene Lethal congenital contracture syndrome type 1 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsInfants🏠 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

To detect pathogenic mutations in the GLE1 gene for definitive diagnosis of Lethal Congenital Contracture Syndrome Type 1, enabling early intervention, genetic counseling, and informed family planning.

Test Code
2761
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure the patient or family provides detailed clinical history and pedigree information. Genetic counseling session is recommended prior to testing.

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or use FTA card for one drop of blood. Follow standard aseptic techniques.

Step 3

Report Delivery

Label the sample correctly and transport to the laboratory at ambient temperature. Avoid hemolysis or contamination.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before sample collection.
2
During the Test:Sample collection is a simple blood draw or FTA card procedure, typically painless with minimal risks.
3
After the Test:Results are available online within 3 to 4 weeks; follow-up counseling is advised for interpretation.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the GLE1 gene for definitive diagnosis of Lethal Congenital Contracture Syndrome Type 1, enabling early intervention, genetic counseling, and informed family planning.

How to Prepare

  • Use EDTA tube for blood samples or FTA card for one drop blood
  • Maintain sample at room temperature during transport
  • Provide completed requisition form with clinical details

Doctor's Notes

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

"This test is crucial for early diagnosis and genetic counseling in families with a history of LCCS1, aiding in informed decision-making and prenatal care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or missing clinical information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GLE1 gene. Positive results confirm LCCS1 diagnosis, while negative results may require further testing or clinical correlation.
Pathogenic variant detected: Confirms diagnosis of LCCS1; genetic counseling recommended
No pathogenic variant detected: Does not rule out other genetic causes; consider additional tests
Variant of uncertain significance: Requires further investigation and family studies
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms of LCCS1 are present, for genetic counseling, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Results require interpretation by a qualified geneticist or genetic counselor
  • ⚠Does not replace clinical evaluation and other diagnostic tests

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results on families
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA quality due to improper storage
  • ●Presence of inhibitors in the sample affecting sequencing

Frequently Asked Questions

What is the GLE1 Gene LCCS1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the GLE1 gene, which causes Lethal Congenital Contracture Syndrome Type 1.
Who should get this test?
Infants with symptoms like joint contractures, muscle weakness, and respiratory distress, or families with a history of LCCS1 or related disorders.
How is the test performed?
A blood sample or one drop of blood on an FTA card is collected and analyzed using NGS technology in our accredited laboratory.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Positive results confirm LCCS1 diagnosis, while negative results may indicate no pathogenic variants in the GLE1 gene, but further testing might be needed.
Is the test covered by insurance?
Insurance coverage varies; check with your provider. We provide documentation for claims if applicable.
What are the symptoms of LCCS1?
Symptoms include fixed joint contractures, muscle weakness affecting face and limbs, respiratory distress, small head, narrow chest, and curved spine.
Can this test be done during pregnancy?
This test is typically for postnatal diagnosis; prenatal testing may be available through other methods like amniocentesis, but consult a genetic counselor.
What is the accuracy of NGS testing?
NGS is highly accurate for detecting gene mutations, but accuracy depends on sample quality and bioinformatics analysis.
How can I prepare for the test?
Provide detailed clinical history and undergo genetic counseling. No fasting is required for blood sample collection.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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