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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: TYR OCA1A NGS Test

Also known as: TYR Gene Mutation Analysis, OCA1A Genetic Test, Albinism Type 1A DNA Test

TYR Gene Albinism, oculocutaneous type 1A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 3, 2026

Overview

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

Test Code
4819
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 (Next Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree if available.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample as per instructions.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as directed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor or physician to discuss symptoms and family history.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Results are reviewed by a geneticist, and a report is provided with recommendations.

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 diagnosis, genetic counseling, and management of the condition.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly
  • Transport samples at ambient temperature unless specified

Doctor's Notes

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

"Genetic testing for albinism aids in early intervention, family planning, and understanding inheritance patterns."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerStandard blood collection tube (e.g., EDTA)
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TYR gene. Positive results confirm a genetic basis for albinism, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of OCA1A; genetic counseling recommended

📊

No pathogenic variant detected

Albinism less likely due to TYR mutations; consider other genetic or clinical causes

📊

Variant of uncertain significance

Further testing or family studies may be needed

⚠️ When to Consult a Doctor:

If symptoms of albinism are present, such as pale skin, light sensitivity, or vision issues, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all possible TYR gene mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●No significant risks from saliva collection

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Recent blood transfusion

Compare With Similar Tests

TestTYR Gene Albinism, oculocutaneous type 1A NGS Genetic Test
ComparisonTYR Gene Albinism, oculocutaneous type 1A NGS Genetic Test

Frequently Asked Questions

What is TYR gene albinism?
TYR gene albinism, or oculocutaneous albinism type 1A, is a genetic disorder caused by mutations in the TYR gene, leading to reduced melanin production and affecting skin, hair, and eye pigmentation.
What are the symptoms of oculocutaneous type 1A albinism?
Symptoms include pale skin, hair, and eyes, increased sensitivity to light, reduced visual acuity, and nystagmus (involuntary eye movements).
How is the TYR gene albinism test performed?
The test uses NGS technology to analyze the TYR gene from a blood or saliva sample, detecting mutations associated with the condition.
What is the cost of the TYR gene albinism NGS test in India?
The cost is INR 20,000 at DNA Labs India, with free home sample collection available 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.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; it is not universally covered. Check with your insurer for details.
What should I do before getting tested?
Consult with a healthcare provider or genetic counselor, provide clinical history, and consider a pedigree chart of family members affected.
Can this test detect all types of albinism?
No, this test specifically targets TYR gene mutations for oculocutaneous albinism type 1A. Other types may require different genetic tests.
What if the test results are positive?
A positive result confirms a genetic diagnosis, and genetic counseling is recommended for management and family planning.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising, but no significant risks from saliva collection.
How accurate is the NGS genetic test for TYR gene albinism?
NGS is highly accurate for detecting known mutations, but may not identify all variants; results should be interpreted by a geneticist.
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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