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FREM2 Gene Fraser syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FREM2 Gene Fraser syndrome NGS Genetic Test

Short Name: FREM2 Gene Test

FREM2 Gene Fraser syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3-4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 identify mutations in the FREM2 gene that cause Fraser Syndrome, enabling early diagnosis, management, and genetic counseling for affected individuals and families.

Test Code
5746
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3-4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to understand the test implications.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a finger prick for DNA extraction.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding and follow any post-collection care instructions.

Timeline: 3-4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation are recommended to assess the need for testing.
2
During the Test:Sample collection and laboratory processing using NGS technology to analyze the FREM2 gene.
3
After the Test:Report generation and delivery, followed by genetic counseling to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the FREM2 gene that cause Fraser Syndrome, enabling early diagnosis, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Bring identification and prescription or referral from a healthcare provider
  • Inform the collection center about any medications or health conditions
  • Ensure the sample is collected in the appropriate container and labeled correctly

Doctor's Notes

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

"Genetic testing for Fraser Syndrome is essential for accurate diagnosis, management, and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for up to 48 hours at room temperature
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample container or labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FREM2 gene associated with Fraser Syndrome.
Positive result: Pathogenic mutation detected, confirming diagnosis of Fraser Syndrome
Negative result: No pathogenic variants detected, but clinical correlation is necessary
Variant of uncertain significance: Further testing or family studies may be required for clarification
⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider immediately upon receiving positive results, or if symptoms persist despite negative results, for further evaluation and management.

Limitations

  • ⚠May not detect all types of genetic mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a geneticist or healthcare provider
  • ⚠Not a substitute for comprehensive clinical evaluation

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection at the puncture site
  • ●Psychological impact of genetic results, addressed through counseling

Interfering Factors

  • ●Poor sample quality or degradation
  • ●Contamination during sample collection or processing
  • ●Insufficient DNA quantity for analysis

Compare With Similar Tests

TestFREM2 Gene Fraser syndrome NGS Genetic TestFRAS1 Gene TestWhole Exome SequencingKaryotypingPrenatal Genetic Testing
ComparisonFREM2 Gene Fraser syndrome NGS Genetic TestTargets mutations in the FRAS1 gene for Fraser Syndrome type 1Provides broader genetic analysis for multiple disordersExamines chromosomal abnormalities, not specific gene mutationsCan be used for prenatal diagnosis if family history is known

Frequently Asked Questions

What is Fraser Syndrome?
Fraser Syndrome is a rare genetic disorder affecting multiple body systems, including eyes, ears, respiratory system, and urinary tract, caused by mutations in genes like FREM2.
What is the FREM2 gene?
The FREM2 gene provides instructions for making a protein that helps cells stick together; mutations in this gene can lead to Fraser Syndrome.
How is the FREM2 Gene Fraser Syndrome NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the DNA sequence of the FREM2 gene from a blood or DNA sample.
What samples are needed for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for sample collection.
How long does it take to get results?
Results are typically available within 3-4 weeks from sample receipt at the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What is the cost of the test?
The test costs INR 20,000, with special discounted pricing available.
Is the test accurate?
The test uses advanced NGS technology for high accuracy, but results should be interpreted by a geneticist.
What if the test result is positive?
A positive result confirms a diagnosis of Fraser Syndrome; consult a geneticist for management and genetic counseling.
Can the test be done during pregnancy?
Prenatal testing may be possible if there is a known family history; consult a healthcare provider for options.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
How do I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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