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L1CAM Gene MASA syndrome NGS Genetic Test

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L1CAM Gene MASA syndrome NGS Genetic Test

Short Name: MASA Syndrome Genetic Test

Also known as: MASA Syndrome, L1CAM Syndrome, Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs Syndrome

L1CAM Gene MASA syndrome 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.

Next-Generation Sequencing🏠 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 purpose of this test is to diagnose MASA syndrome by identifying pathogenic mutations in the L1CAM gene using Next-Generation Sequencing technology, enabling early intervention and genetic counseling.

Test Code
1672
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

No special preparation is required. A genetic counseling session is recommended to draw a pedigree chart and review clinical history.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist via venipuncture or finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. No specific aftercare is needed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor and provide detailed clinical and family history.
2
During the Test:The test involves Next-Generation Sequencing to analyze the L1CAM gene for mutations.
3
After the Test:Results are analyzed by genetic experts and a report is generated with interpretations.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose MASA syndrome by identifying pathogenic mutations in the L1CAM gene using Next-Generation Sequencing technology, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper labeling of the sample
  • Avoid hemolysis by gentle mixing
  • Use the provided anticoagulant tube or FTA card

Doctor's Notes

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

"Early genetic testing for MASA syndrome is crucial for management, intervention, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
DNA stable for long-term storage when extracted properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

This test detects mutations in the L1CAM gene associated with MASA syndrome. Interpretation should be done in conjunction with clinical findings and genetic counseling.
📊

Pathogenic variant detected

Consistent with a diagnosis of MASA syndrome. Genetic counseling recommended for management and family planning.

📊

No pathogenic variant detected

MASA syndrome is unlikely based on genetic analysis. Clinical correlation is advised for further evaluation.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as intellectual disability, speech issues, or neurological abnormalities are present, or if there is a family history of MASA syndrome for genetic counseling and testing.

Limitations

  • ⚠May not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Limited to mutations in the L1CAM gene only

Risks & Considerations

  • ●Minimal risk of bruising or infection from blood draw
  • ●No significant risks associated with the test itself

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample collection or storage
  • ●Presence of hemolysis in blood samples

Compare With Similar Tests

TestL1CAM Gene MASA syndrome NGS Genetic TestSanger SequencingWhole Exome SequencingChromosomal Microarray
ComparisonL1CAM Gene MASA syndrome NGS Genetic Test

Frequently Asked Questions

What is MASA syndrome?
MASA syndrome is a rare genetic disorder caused by mutations in the L1CAM gene, characterized by Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.
What is the L1CAM gene?
The L1CAM gene, located on the X chromosome, produces the L1 cell adhesion molecule crucial for nervous system development and axon formation.
What are the symptoms of MASA syndrome?
Symptoms include intellectual disability, speech impairment, muscle weakness, abnormal movements, shuffling gait, and adducted thumbs.
How is MASA syndrome diagnosed?
Diagnosis involves NGS Genetic Test to identify L1CAM gene mutations, along with clinical evaluation and sometimes imaging tests like MRI or CT scan.
What is an NGS Genetic Test?
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can detect mutations in genes like L1CAM for disorders such as MASA syndrome.
What is the cost of this test?
The L1CAM Gene MASA Syndrome NGS Genetic Test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is the test non-invasive?
Yes, it involves a simple blood sample collection, which is non-invasive and safe.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Where can I get this test done?
DNA Labs India offers this test across India with home collection in major cities like Mumbai, Delhi, Bangalore, and more.
Is genetic counseling necessary before testing?
Yes, a genetic counseling session is recommended to understand the implications and draw a family pedigree chart.
Can this test be used for family planning?
Yes, identifying L1CAM mutations can guide family planning decisions and prenatal testing if applicable.
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.

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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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