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TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic Test

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TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic Test

Short Name: TYRP1 Gene Albinism Test

Also known as: Oculocutaneous Albinism Type 3, OCA3, TYRP1-related Albinism

TYRP1 Gene Albinism, oculocutaneous type 3 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 3, 2026

Overview

To identify pathogenic variants in the TYRP1 gene for diagnosing oculocutaneous albinism type 3, guiding clinical management and genetic counseling.

Test Code
4821
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

Genetic counseling session recommended to discuss test implications and draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection using an FTA card with one drop of blood.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory under ambient room temperature for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling, provide clinical history, and sign informed consent.
2
During the Test:Sample collection procedure takes approximately 10-15 minutes.
3
After the Test:Wait for 3-4 weeks for results; follow up with a genetic specialist for interpretation.

About This Test

Who Should Get This Test

To identify pathogenic variants in the TYRP1 gene for diagnosing oculocutaneous albinism type 3, guiding clinical management and genetic counseling.

How to Prepare

  • No fasting required unless specified by physician
  • Ensure proper identification and labeling of sample
  • Follow aseptic techniques to prevent contamination

Doctor's Notes

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

"This NGS test is essential for confirming TYRP1 gene mutations in suspected oculocutaneous albinism cases, aiding in genetic counseling and management."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples: Stable for 48 hours at room temperature
FTA cards: Stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TYRP1 gene. Positive results confirm a diagnosis of oculocutaneous albinism type 3, while negative results may require further testing if clinical suspicion remains.
📊

Positive for pathogenic variant

Confirms diagnosis of OCA3; genetic counseling and management recommended.

📊

Negative for pathogenic variant

No TYRP1 mutations detected; consider other genetic causes or clinical evaluation.

📊

Variant of uncertain significance (VUS)

Further family studies or functional assays may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of albinism are present, for genetic counseling after a positive result, or to discuss family planning options.

Limitations

  • ⚠May not detect all possible TYRP1 gene variants or deep intronic mutations
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Does not rule out other forms of albinism or genetic conditions

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination or degradation
  • ●Previous blood transfusions within 4 weeks
  • ●Insufficient DNA quantity or quality

Frequently Asked Questions

What is the TYRP1 Gene Albinism NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the TYRP1 gene, which causes oculocutaneous albinism type 3.
Who should consider this test?
Individuals with symptoms of albinism, such as pale skin, hair, and eye color, vision problems, or a family history of the condition.
What is the cost of the test in India?
The test costs INR 20000, with free home sample collection available across India.
How is the sample collected?
Sample can be collected via blood draw or using an FTA card with one drop of blood. Home collection is available.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Positive results confirm TYRP1 gene mutations causing OCA3. Negative results may indicate no mutations, but further testing might be needed.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and guide management.
Can this test be done for prenatal diagnosis?
It is primarily for postnatal diagnosis; consult a genetic specialist for prenatal options.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
Is the test available in my city?
Yes, home sample collection is available in numerous cities across India, including Mumbai, Delhi, Bangalore, and many more.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological impacts, hence counseling 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

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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