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LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test

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LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test

Short Name: LAMA3 Gene LOCS NGS Test

Also known as: Laryngoonychocutaneous syndrome, LOCS syndrome

LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

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

To confirm the diagnosis of Laryngoonychocutaneous syndrome by detecting mutations in the LAMA3 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5048
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for one-drop blood collection.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. The sample will be processed in the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the test, implications, and family history. Provide informed consent and clinical details.
2
During the Test:Sample collection is performed, followed by DNA extraction and NGS analysis in the laboratory.
3
After the Test:Results are reviewed by a geneticist and reported. Follow-up with the referring physician for management based on findings.

About This Test

Who Should Get This Test

To confirm the diagnosis of Laryngoonychocutaneous syndrome by detecting mutations in the LAMA3 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details
  • Follow standard phlebotomy procedures
  • For FTA card, ensure proper blood application and drying

Doctor's Notes

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

"Genetic testing for LOCS is crucial for accurate diagnosis and management. Consult a genetic counselor for family planning and early intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored at -20°C or below
FTA card: Stable for extended periods at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood sample
  • Incorrect labeling or mismatched patient information
  • Contaminated or degraded sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the LAMA3 gene associated with Laryngoonychocutaneous syndrome. Interpretation should be done by a qualified geneticist or healthcare provider.
📊

Pathogenic variant detected

Confirms diagnosis of LOCS; genetic counseling and management planning recommended

📊

No pathogenic variant detected

LOCS unlikely based on genetic testing; clinical correlation and further evaluation may be needed

📊

Variant of uncertain significance

Further testing or family studies may be required; genetic counseling advised

⚠️ When to Consult a Doctor:

If symptoms of LOCS are present, such as skin blistering, nail abnormalities, or mucous membrane issues, or if there is a family history of the disorder, consult a geneticist, dermatologist, or OB-GYN for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations or variants of uncertain significance
  • ⚠Results must be interpreted in conjunction with clinical findings
  • ⚠Genetic counseling is recommended for result interpretation
  • ⚠Test does not rule out other genetic conditions

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Technical errors during sequencing
  • ●Insufficient sample volume

Compare With Similar Tests

TestLAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test
ComparisonLAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test

Frequently Asked Questions

What is the LAMA3 Gene LOCS NGS Genetic Test?
It is a Next Generation Sequencing test to detect mutations in the LAMA3 gene, confirming diagnosis of Laryngoonychocutaneous syndrome.
What is the cost of the test?
The test costs INR 20000, including home sample collection across India.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to identify genetic variants in the LAMA3 gene.
What are the symptoms of LOCS?
Symptoms include blistering skin, nail abnormalities, scarring, mucous membrane issues, and breathing or swallowing difficulties.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home collection available?
Yes, free home sample collection is offered for online bookings across India.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
Who should take this test?
Individuals with symptoms of LOCS, family history of the disorder, or those suspected of having a genetic skin condition.
What if the test is positive?
A positive result confirms LOCS; genetic counseling and management by a specialist team are recommended.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
How accurate is the test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted clinically with genetic counseling.
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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