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PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic Test

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PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic Test

Short Name: PHOX2A Gene Fibrosis Type 2 NGS Test

Also known as: Congenital fibrosis of extraocular muscles type 2, CFEOM2, PHOX2A-related fibrosis

PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 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.

NGS Genetic TestAll ages, typically pediatric onset🏠 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 PHOX2A gene to confirm a diagnosis of congenital fibrosis of extraocular muscles type 2, guide clinical management, and facilitate genetic counseling for affected individuals and their families.

Test Code
4938
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Sample is collected via venipuncture (blood draw) or using an FTA card for a drop of blood. The process is minimally invasive and takes a few minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per instructions and transport to the lab promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation are recommended before testing to ensure informed consent and appropriate test selection.
2
During the Test:The test involves NGS analysis of the PHOX2A gene from the provided sample, performed in a certified laboratory.
3
After the Test:Results are reviewed by a geneticist, and a detailed report is provided. Follow-up counseling is advised for positive results.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the PHOX2A gene to confirm a diagnosis of congenital fibrosis of extraocular muscles type 2, guide clinical management, and facilitate genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure patient is relaxed and hydrated
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Follow transport guidelines for sample stability

Doctor's Notes

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

"Early genetic testing for PHOX2A mutations can aid in accurate diagnosis, guide management strategies, and inform family planning for hereditary conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood: Stable for 7 days at 2-8°C
Extracted DNA: Stable for 1 year at -20°C
FTA Card: Stable at room temperature for months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PHOX2A gene. A positive result confirms CFEOM2, while a negative result may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of CFEOM2; genetic counseling recommended

📊

No pathogenic variant detected

CFEOM2 unlikely; consider other genetic or clinical causes

📊

Variant of uncertain significance

Further testing or family studies may be needed

⚠️ When to Consult a Doctor:

Consult a geneticist or ophthalmologist if symptoms persist, for result interpretation, or to discuss management options such as surgery or therapy.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires interpretation by a genetic counselor
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as slight pain or bruising
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Degraded DNA due to improper storage
  • ●Presence of inhibitors in blood samples

Compare With Similar Tests

TestPHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic TestPHOX2B Gene TestComprehensive Eye Movement Disorder PanelWhole Exome Sequencing
ComparisonPHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic Test

Frequently Asked Questions

What is the PHOX2A Gene Fibrosis Type 2 NGS Test?
It is a genetic test using next-generation sequencing to detect mutations in the PHOX2A gene, which causes congenital fibrosis of extraocular muscles type 2, a disorder affecting eye movement.
Who should consider this test?
Individuals with symptoms like squinting, abnormal head posture, or difficulty moving eyes, especially with a family history of similar conditions, should consider this test.
How is the sample collected?
Samples can be collected via blood draw or using an FTA card for a drop of blood. Free home collection is available across India.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and genetic counseling.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
What do the results indicate?
Results show if pathogenic mutations are present in the PHOX2A gene, confirming or ruling out CFEOM2.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss results and implications for family planning.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as slight pain or bruising. Psychological support is available if needed.
Can this test be done for children?
Yes, the test is suitable for all ages, including children, as symptoms often present in early childhood.
What if the test result is negative?
A negative result may indicate CFEOM2 is unlikely, but further clinical evaluation or other genetic tests might be recommended.
How accurate is the NGS test?
NGS technology provides high accuracy for detecting mutations in the PHOX2A gene, but results should be interpreted alongside clinical findings.
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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