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TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic Test

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TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic Test

Short Name: OCA1A NGS Test

Also known as: OCA1A, Tyrosinase-negative OCA, Albinism Oculocutaneous Type IA

TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 Test🏠 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 detect mutations in the TYR gene that cause oculocutaneous albinism type 1A, aiding in definitive diagnosis, management, and genetic counseling.

Test Code
1472
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 Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and pedigree chart information.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A small blood sample or saliva will be collected by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. The sample will be sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No special preparation required. Provide clinical history and pedigree chart information during genetic counseling.
2
During the Test:The collected sample is processed in the laboratory using Next-Generation Sequencing (NGS) technology to analyze the TYR gene.
3
After the Test:Results are reviewed by geneticists, and a detailed clinical report is prepared and delivered to the patient or physician.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the TYR gene that cause oculocutaneous albinism type 1A, aiding in definitive diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use aseptic technique for collection
  • Collect blood in EDTA tube or spot on FTA card
  • Label sample correctly with patient details

Doctor's Notes

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

"Genetic testing for TYR gene mutations is crucial for accurate diagnosis and informing treatment strategies for oculocutaneous albinism type 1A."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeStandard blood sample (2-5 mL)
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Room Temperature24 hours
2-8°C (Refrigerated)72 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted blood
  • Insufficient sample volume
  • Contaminated or mislabeled sample

Understanding Your Results

Results indicate the presence or absence of mutations in the TYR gene associated with oculocutaneous albinism type 1A. Interpretation should be done in conjunction with clinical findings.
📊

Pathogenic mutation in TYR gene detected, consistent with diagnosis of oculocutaneous albinism type 1A

📊

No pathogenic mutations detected in TYR gene; does not rule out other forms of albinism

📊

Genetic variant found but clinical significance unknown; further testing or family studies may be needed

⚠️ When to Consult a Doctor:

Consult a geneticist, ophthalmologist, or healthcare provider if you experience symptoms such as pale skin, light hair, eye abnormalities, or have a family history of albinism for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all TYR gene variants
  • ⚠Does not assess other albinism-related genes
  • ⚠Requires genetic counseling for result interpretation

Risks & Considerations

  • ●Minor bruising at the blood draw site
  • ●Rare risk of infection at the puncture site
  • ●Minimal discomfort during sample collection

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Improper sample handling

Frequently Asked Questions

What is oculocutaneous albinism type 1A?
Oculocutaneous albinism type 1A (OCA1A) is a genetic disorder caused by mutations in the TYR gene, leading to a complete absence of tyrosinase enzyme and no melanin production, resulting in very light skin, hair, and eyes.
What are the symptoms of OCA1A?
Symptoms include white or very light skin and hair, light-colored eyes, nystagmus (involuntary eye movements), photophobia (sensitivity to light), poor vision, and increased risk of skin cancer.
How is OCA1A diagnosed?
Diagnosis is confirmed through genetic testing to identify mutations in the TYR gene. The NGS Genetic Test from DNA Labs India is a reliable method for detection.
What does the TYR gene NGS test involve?
The test uses Next-Generation Sequencing to analyze the TYR gene for mutations. It requires a blood sample or extracted DNA and is non-invasive.
How much does the test cost?
The TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic Test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate whether pathogenic mutations in the TYR gene are detected. A positive result confirms OCA1A, while negative means no mutations found. Genetic counseling is recommended for interpretation.
Is this test covered by insurance?
Coverage varies by insurance provider. It is advisable to check with your insurance company. DNA Labs India offers transparent pricing.
Who should consider this test?
Individuals with symptoms of albinism, those with a family history of OCA1A, or anyone suspected of having oculocutaneous albinism should consider this test.
What is the sample type for the test?
The test can be performed on blood samples, extracted DNA, or one drop of blood on an FTA card.
Are there any risks associated with the test?
The test involves a simple blood draw, which has minimal risks such as minor bruising or infection at the puncture site, which are rare.
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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