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OCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic Test

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OCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic Test

Short Name: OCA2 Albinism Genetic Test

Also known as: Oculocutaneous Albinism Type 2 Genetic Test, OCA2 Gene Test, Albinism Genetic Panel

OCA2 Gene Albinism, Oculocutaneous 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 from sample collection. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 the OCA2 Gene Albinism Genetic Test is to identify mutations in the OCA2 gene to diagnose Oculocutaneous Albinism Type 2, aiding in clinical management and genetic counseling.

Test Code
1475
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample collection
Fasting Required
No
Method
Next-generation sequencing (NGS)
Step 1

Sample Collection

Obtain clinical history and provide genetic counseling. Ensure patient consent and understanding of the test.

Method: Venipuncture or Finger prick for FTA card

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or use FTA card for one drop of blood. Follow standard phlebotomy procedures.

Step 3

Report Delivery

Label the sample correctly and transport to the laboratory under appropriate conditions.

Timeline: 3 to 4 Weeks from sample collection

Patient Instructions

1
Before the Test:Genetic counseling to discuss the test, its implications, and obtain informed consent. Medical history review.
2
During the Test:A blood sample is drawn, typically from a vein in the arm. For FTA card, a small prick on the finger.
3
After the Test:The sample is processed in the laboratory. Results are available in 3 to 4 weeks. Follow-up with genetic counselor recommended.

About This Test

Who Should Get This Test

The purpose of the OCA2 Gene Albinism Genetic Test is to identify mutations in the OCA2 gene to diagnose Oculocutaneous Albinism Type 2, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile needles and syringes
  • Collect blood in EDTA tube or apply to FTA card
  • Label samples with patient details
  • Store at ambient temperature unless specified

Doctor's Notes

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

"Genetic testing for OCA2 is crucial for early diagnosis and management. Consult with a genetic counselor for personalized care and family planning advice."

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 for FTA card

Sample Stability

Blood in EDTA: Stable at 2-8°C for up to 48 hours
FTA card: Stable at room temperature for several days
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Genetic test results should be interpreted by a qualified geneticist or genetic counselor in the context of clinical findings and family history.
📊

Positive for pathogenic OCA2 mutation

Confirms diagnosis of Oculocutaneous Albinism Type 2. Genetic counseling recommended for family planning and management.

📊

Negative for OCA2 mutations

OCA2 is unlikely; consider other types of albinism or genetic conditions. Further clinical evaluation may be needed.

📊

Variant of uncertain significance (VUS)

A genetic variant was detected but its clinical significance is unknown. Additional testing and family studies may be required.

⚠️ When to Consult a Doctor:

If you or your child exhibit symptoms of albinism such as pale skin, light hair, or vision problems, or if there is a family history of albinism, consult a healthcare provider or genetic counselor for testing and management.

Limitations

  • ⚠May not detect all possible mutations in OCA2 gene
  • ⚠False negatives can occur in rare cases
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Not suitable for prenatal diagnosis without additional testing

Risks & Considerations

  • ●Minor bruising or hematoma at the needle site
  • ●Infection risk (very low with proper technique)
  • ●Discomfort or pain during blood draw
  • ●Anxiety related to test results

Interfering Factors

  • ●Sample contamination
  • ●Insufficient DNA quality or quantity
  • ●Degraded DNA samples
  • ●Incorrect sample handling

Compare With Similar Tests

TestOCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic Test
ComparisonOCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic Test

Frequently Asked Questions

What is OCA2 Gene Albinism?
OCA2 is a genetic disorder caused by mutations in the OCA2 gene, leading to reduced melanin production and symptoms like pale skin, light hair, and vision problems.
What are the common symptoms of OCA2?
Symptoms include pale skin, light-colored hair, light-colored eyes, nystagmus (involuntary eye movements), reduced visual acuity, and sensitivity to light.
How is OCA2 diagnosed?
OCA2 is diagnosed through genetic testing, specifically NGS analysis of the OCA2 gene to identify mutations.
What is the cost of the OCA2 NGS Genetic Test in India?
The test costs INR 20000 at DNA Labs India, which includes home sample collection across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the OCA2 genetic test?
The test can be performed on blood samples, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider getting the OCA2 genetic test?
Individuals with symptoms of albinism, a family history of albinism, or those undergoing genetic counseling for related conditions.
What is NGS technology used in this test?
Next-Generation Sequencing (NGS) is an advanced genetic testing technology that allows for rapid and accurate analysis of multiple genes, including the OCA2 gene.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children, with proper consent and sample collection.
What if the test results are negative for OCA2 mutations?
Negative results suggest OCA2 is unlikely, but other types of albinism or genetic conditions may be considered. Further clinical evaluation is recommended.
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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