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DNA Labs India

TYR Gene Albinism, Oculocutaneous Type 1B NGS Genetic Test

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TYR Gene Albinism, Oculocutaneous Type 1B NGS Genetic Test

Short Name: TYR Gene Albinism Test

Also known as: Oculocutaneous Albinism Type 1B, OCA1B, TYR-related Albinism

TYR Gene Albinism, Oculocutaneous Type 1B 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 receipt. 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

To diagnose mutations in the TYR gene associated with Oculocutaneous Albinism Type 1B, confirm clinical symptoms, assist in genetic counseling, and support family planning and management strategies.

Test Code
1474
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Complete a genetic counseling session to draw a pedigree chart. No fasting or special preparation is required. Bring identification and doctor's prescription if available.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Schedule a genetic counseling session. No special preparation needed for sample collection.
2
During the Test:Sample is processed in the lab using NGS technology to analyze the TYR gene for mutations.
3
After the Test:Results are reviewed by a geneticist and a clinical report is generated. Genetic counseling is recommended to discuss findings.

About This Test

Who Should Get This Test

To diagnose mutations in the TYR gene associated with Oculocutaneous Albinism Type 1B, confirm clinical symptoms, assist in genetic counseling, and support family planning and management strategies.

How to Prepare

  • No fasting required
  • Ensure proper identification and prescription
  • Inform the collector about any medications or health conditions
  • Sample should be collected in a sterile environment

Doctor's Notes

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

"This test is crucial for confirming diagnosis of OCA1B, guiding management strategies, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TYR gene. Interpretation should be done by a genetic counselor in conjunction with clinical findings.
📊

No pathogenic variants detected

Low risk for OCA1B; clinical correlation recommended if symptoms persist

📊

Pathogenic variant(s) detected

Diagnosis of OCA1B confirmed; genetic counseling and management plans advised

⚠️ When to Consult a Doctor:

If you experience symptoms of albinism, have a family history, receive a positive test result, or need guidance on management and family planning.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Results require interpretation by a qualified genetic counselor
  • ⚠Not a standalone diagnostic tool; clinical correlation is essential
  • ⚠Limited to TYR gene; other albinism genes not covered

Risks & Considerations

  • ●Minimal physical risks from blood draw (e.g., bruising)
  • ●Potential emotional impact of genetic results
  • ●Risk of incidental findings requiring further investigation

Interfering Factors

  • ●Poor sample quality
  • ●Contamination of DNA sample
  • ●Improper storage or handling

Frequently Asked Questions

What is TYR Gene Albinism, Oculocutaneous Type 1B?
It is a genetic disorder caused by mutations in the TYR gene, leading to reduced melanin production and symptoms like light skin, hair, eyes, and vision problems.
Who should consider taking this test?
Individuals with symptoms of albinism, a family history of OCA1B, or those seeking confirmation of diagnosis for management and counseling.
How is the test performed?
A blood or DNA sample is collected and analyzed using Next-Generation Sequencing (NGS) to detect mutations in the TYR gene.
What is the cost of the TYR Gene Albinism OCA1B NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, inclusive of sample collection, analysis, and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the TYR gene, confirming a diagnosis of OCA1B.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible but requires specialized counseling and coordination with healthcare providers.
Are there any risks associated with the genetic test?
Physical risks are minimal, such as bruising from blood draw. Psychological impacts of results may require counseling.
How accurate is the NGS technology used in this test?
NGS provides high accuracy for detecting genetic variants, but accuracy depends on sample quality and bioinformatics analysis.
Do I need a doctor's prescription for this test?
A prescription is recommended but not mandatory. Genetic counseling is advised before testing.
What should I do after receiving the test results?
Consult a genetic counselor or healthcare provider to discuss results, management options, and family planning.
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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