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FRAS1 Gene Fraser syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FRAS1 Gene Fraser syndrome NGS Genetic Test

Short Name: FRAS1 Gene Fraser Syndrome NGS Test

Also known as: Fraser syndrome type 1, FRAS1-related disorder

FRAS1 Gene Fraser syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the FRAS1 Gene Fraser Syndrome NGS Genetic Test is to diagnose Fraser syndrome by detecting pathogenic mutations in the FRAS1 gene using Next Generation Sequencing technology. This aids in confirming clinical suspicion, guiding management, and providing genetic counseling for affected individuals and families.

Test Code
5745
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 (Next Generation Sequencing)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling. Ensure proper identification and consent.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected by a trained phlebotomist via venipuncture or using a blood drop on FTA card. Minimal discomfort expected.

Step 3

Report Delivery

Sample is labeled, stored at ambient temperature, and transported to the laboratory for processing and analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history, and obtain informed consent.
2
During the Test:Blood sample collection is a simple procedure with minimal risks.
3
After the Test:Results are delivered online; follow-up with a geneticist for interpretation and management.

About This Test

Who Should Get This Test

The purpose of the FRAS1 Gene Fraser Syndrome NGS Genetic Test is to diagnose Fraser syndrome by detecting pathogenic mutations in the FRAS1 gene using Next Generation Sequencing technology. This aids in confirming clinical suspicion, guiding management, and providing genetic counseling for affected individuals and families.

How to Prepare

  • Follow standard blood collection procedures
  • Use sterile equipment to prevent contamination
  • Label samples accurately with patient details
  • For FTA card, apply one drop of blood and air-dry

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for Fraser syndrome can aid in timely management, family planning, and informed decision-making for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect labeling or insufficient sample volume
  • Sample contaminated or improperly stored

Understanding Your Results

Results from the FRAS1 Gene Fraser Syndrome NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider. A positive result indicates the presence of pathogenic mutations in the FRAS1 gene, confirming Fraser syndrome diagnosis. Negative results may require further testing if clinical suspicion remains high.
Positive: Pathogenic variant(s) detected – confirms Fraser syndrome diagnosis
Negative: No pathogenic variants detected – does not fully exclude Fraser syndrome; consider other genetic tests
Variant of uncertain significance (VUS): Requires further evaluation and genetic counseling
Inconclusive: Repeat testing or additional family studies may be recommended
⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibits symptoms of Fraser syndrome, such as eye abnormalities, hearing loss, or limb malformations. Also, seek genetic counseling if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic conditions with similar symptoms
  • ⚠Turnaround time of 3-4 weeks may delay diagnosis in urgent cases

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume or quality
  • ●Recent blood transfusion may affect results
  • ●Technical errors in sequencing or analysis

Frequently Asked Questions

What is Fraser syndrome?
Fraser syndrome is a rare genetic disorder caused by mutations in the FRAS1 gene, leading to malformations of the eyes, ears, nose, throat, limbs, kidneys, and lungs.
What causes Fraser syndrome?
It is caused by mutations in the FRAS1 gene, which is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene.
What are the common symptoms of Fraser syndrome?
Symptoms include cryptophthalmos (fused eyelids), cleft palate, limb abnormalities, renal cysts, and hearing loss, with severity varying among individuals.
How is Fraser syndrome diagnosed?
Diagnosis involves physical examination, imaging tests, and genetic testing such as NGS to identify mutations in the FRAS1 gene.
What is NGS genetic testing?
NGS (Next Generation Sequencing) is a advanced DNA sequencing method that can analyze multiple genes simultaneously to detect mutations associated with genetic disorders like Fraser syndrome.
What is the cost of the FRAS1 Gene Fraser Syndrome NGS Genetic Test in India?
The cost is INR 20,000 at DNA Labs India, which includes home sample collection and comprehensive reporting.
How is the sample collected for this test?
A blood sample is collected via venipuncture or a blood drop on an FTA card, with home collection available across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the NGS genetic test accurate for diagnosing Fraser syndrome?
Yes, NGS is highly accurate for detecting mutations in the FRAS1 gene, but results should be interpreted by a genetic specialist.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal diagnosis if there is a family history or suspicion, but it requires specialized prenatal samples and counseling.
What should I do if the test result is positive?
Consult a geneticist for confirmation, management options, and genetic counseling for family planning and support.
Is genetic counseling available with this test?
Yes, DNA Labs India provides genetic counseling sessions to discuss test implications, results, and family pedigree.
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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✓ 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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