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EYA1 Gene Otofaciocervical syndrome NGS Genetic Test

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EYA1 Gene Otofaciocervical syndrome NGS Genetic Test

Short Name: EYA1 NGS Test

Also known as: EYA1 Gene Sequencing, OFC NGS Panel, Otofaciocervical Syndrome Genetic Test

EYA1 Gene Otofaciocervical 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 Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 EYA1 Gene NGS Genetic Test is to detect mutations in the EYA1 gene that cause Otofaciocervical Syndrome Type 1. This test aids in confirming a clinical diagnosis, identifying carriers in at-risk family members, and providing essential information for genetic counseling and reproductive planning. It also helps differentiate OFC from other craniofacial syndromes with overlapping features, ensuring appropriate medical management.

Test Code
5889
CPT Code
81407
ICD Code
Q87.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications of results.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. If using FTA card, a simple finger-prick is performed.

Step 3

Report Delivery

You may resume normal activities immediately. The sample will be sent to the laboratory for analysis.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. However, a pre-test genetic counseling session is recommended to understand the benefits, risks, and limitations of the test.
2
During the Test:The test involves a simple blood draw or finger-prick. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities. Results will be available in 3-4 weeks and will be communicated via your preferred method.

About This Test

Who Should Get This Test

The purpose of the EYA1 Gene NGS Genetic Test is to detect mutations in the EYA1 gene that cause Otofaciocervical Syndrome Type 1. This test aids in confirming a clinical diagnosis, identifying carriers in at-risk family members, and providing essential information for genetic counseling and reproductive planning. It also helps differentiate OFC from other craniofacial syndromes with overlapping features, ensuring appropriate medical management.

How to Prepare

  • Ensure the patient's identity is verified with a valid ID.
  • For blood collection, use an EDTA vacutainer and mix gently.
  • For FTA card, apply one drop of blood onto the designated circle and allow to air dry.
  • Label the sample with patient's name, date, and unique ID.
  • Transport the sample at ambient temperature to the laboratory within 48 hours.

Doctor's Notes

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

"Genetic testing for EYA1 mutations is crucial for confirming Otofaciocervical syndrome and guiding management. Early diagnosis can significantly improve outcomes through timely interventions for hearing loss, speech therapy, and surgical corrections."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Whole blood (EDTA)48 hours
Extracted DNA6 months
FTA card1 year
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit time (>72 hours) without proper storage

Understanding Your Results

The EYA1 gene NGS test identifies pathogenic variants that cause Otofaciocervical syndrome. Results are interpreted by clinical geneticists and reported with clear classification.
📊

Positive (Pathogenic variant detected)

Confirms the diagnosis of Otofaciocervical syndrome Type 1. Genetic counseling and family screening are recommended.

📊

Negative (No pathogenic variant detected)

Does not rule out OFC; other genetic causes may be considered. Clinical correlation is advised.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is unknown. Further testing of family members may help clarify.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatrician if you or your child have symptoms suggestive of Otofaciocervical syndrome, such as ear malformations, hearing loss, or facial abnormalities. Early consultation can lead to timely diagnosis and management.

Limitations

  • ⚠This test does not detect all possible mutations in the EYA1 gene, such as large genomic rearrangements.
  • ⚠Variants of uncertain significance (VUS) may be reported, requiring further family studies.
  • ⚠Negative results do not completely rule out OFC, as mutations in other genes may cause similar phenotypes.
  • ⚠Genetic counseling is recommended to interpret results in the context of clinical findings.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving genetic results
  • ●Potential for uncertain results (VUS) requiring further testing

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient DNA quantity or quality
  • ●Presence of large deletions/duplications not detected by standard NGS
  • ●Mosaic mutations may be missed

Compare With Similar Tests

TestEYA1 Gene Otofaciocervical syndrome NGS Genetic TestWhole Exome Sequencing (WES)Targeted EYA1 Sanger SequencingChromosomal Microarray (CMA)
ComparisonEYA1 Gene Otofaciocervical syndrome NGS Genetic TestWES analyzes all coding regions of the genome, while this test focuses only on the EYA1 gene. WES is more comprehensive but costlier and may identify incidental findings.Sanger sequencing is used for known familial mutations, whereas NGS can detect novel variants across the entire gene.CMA detects copy number variations but does not identify single nucleotide variants in EYA1.

Frequently Asked Questions

What is the cost of the EYA1 Gene Otofaciocervical syndrome NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, which includes free home sample collection.
What sample is required for this test?
The sample can be blood (2-3 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the results?
Reports are typically available within 3 to 4 weeks after the sample is received.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What is Otofaciocervical syndrome?
It is a rare genetic disorder affecting the ears, face, and neck, caused by mutations in the EYA1 gene.
Who should consider this test?
Individuals with symptoms like ear malformations, hearing loss, facial abnormalities, or a family history of OFC.
Does this test detect all types of EYA1 mutations?
NGS detects most single nucleotide variants and small indels, but large deletions/duplications may not be detected.
Will I need genetic counseling?
Yes, a genetic counseling session is recommended before and after the test to understand the implications.
Is home sample collection available?
Yes, we offer free home sample collection across major cities in India for online bookings.
What does a positive result mean?
A positive result confirms the presence of a pathogenic mutation in EYA1, confirming the diagnosis of OFC.
Can this test be done for prenatal diagnosis?
Yes, with appropriate counseling and if a familial mutation is known, prenatal testing can be arranged.
Are there any risks associated with the test?
The test is safe with minimal risks like bruising at the blood draw site. Genetic results may have psychological impact.
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

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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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