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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 OCA3 NGS

Also known as: OCA3 Genetic Test, TYRP1 Gene Mutation Analysis, TYRP1 Gene Sequencing Test

TYRP1 Gene Albinism, Oculocutaneous Type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing, Sanger confirmation if required, Copy number variant analysis 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 NGS genetic test is to identify pathogenic sequence variants in the TYRP1 gene that cause Oculocutaneous Albinism Type 3. It supports a confirmed molecular diagnosis, helps differentiate OCA3 from other albinism subtypes, and informs genetic counseling and recurrence risk assessment.

Test Code
3762
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
Next Generation Sequencing, Sanger confirmation if required, Copy number variant analysis
Step 1

Sample Collection

No fasting is required. A genetic counseling session and clinical history documentation, including a pedigree chart of affected family members, are recommended before testing.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood in an EDTA tube or prepare a dried blood spot on an FTA card as advised.

Step 3

Report Delivery

The sample will be transported to the laboratory. You will receive updates and the clinical report within 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Pre-test genetic counseling and pedigree drawing are strongly recommended for accurate interpretation.
2
During the Test:A blood sample is collected by venipuncture or a few drops are spotted on an FTA card.
3
After the Test:The clinical report will be shared in 3 to 4 weeks. Genetic counseling is recommended for result interpretation.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic sequence variants in the TYRP1 gene that cause Oculocutaneous Albinism Type 3. It supports a confirmed molecular diagnosis, helps differentiate OCA3 from other albinism subtypes, and informs genetic counseling and recurrence risk assessment.

How to Prepare

  • No fasting is required.
  • Carry a valid ID and the test requisition form.
  • Provide clinical history and family pedigree information before collection.
  • For FTA card samples, apply the blood drops exactly as instructed and allow them to dry.
  • Free home sample collection is available for online bookings.

Doctor's Notes

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

"Molecular confirmation is essential in albinism as it enables accurate genetic counseling and supports families in making informed reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne drop blood on FTA card or whole blood sample
ContainerEDTA vacutainer / FTA blood spot card
Collection MethodVenipuncture or FTA card spot

Sample Stability

FTA card samples are stable at ambient room temperature.
Blood/EDTA samples should be transported to the laboratory at the earliest opportunity.
Sample Rejection Criteria:
  • Incorrectly labelled sample
  • Clotted or haemolysed blood sample
  • FTA card without dried blood spots
  • Inadequate quantity of extracted DNA

Understanding Your Results

This test result should always be interpreted in the context of clinical findings, family history, and genetic counseling.
Detection of biallelic pathogenic/likely pathogenic variants in TYRP1 is consistent with a molecular diagnosis of oculocutaneous albinism type 3.
Detection of one heterozygous pathogenic/likely pathogenic variant in an unaffected individual is consistent with carrier status.
Absence of a clinically significant variant does not exclude OCA3 caused by variants in other genes or by variants not detectable by this assay.
⚠️ When to Consult a Doctor:

If you or your child has unexplained hypopigmentation, nystagmus, photophobia, or a family history of albinism, consult an ophthalmologist, dermatologist, or clinical geneticist for clinical evaluation and genetic testing.

Limitations

  • ⚠This test analyzes only the TYRP1 gene and is not a complete albinism panel.
  • ⚠It may not detect all large structural rearrangements, deep intronic variants, or variants in other albinism-associated genes.
  • ⚠A variant of uncertain significance may require additional family studies or functional testing.

Risks & Considerations

  • ●Minimal bruising at the blood collection site
  • ●Mild pain or discomfort during venipuncture
  • ●Rare risk of infection

Interfering Factors

  • ●Low DNA yield or degraded DNA
  • ●Sample mix-up or contamination
  • ●Variants in deep intronic or regulatory regions not covered by this test
  • ●Low-level mosaicism below the analytical sensitivity

Compare With Similar Tests

TestTYRP1 Gene Albinism, Oculocutaneous Type 3 NGS Genetic Test
ComparisonTYRP1 Gene Albinism, Oculocutaneous Type 3 NGS Genetic Test

Frequently Asked Questions

What is TYRP1-related oculocutaneous albinism type 3?
OCA3 is a rare autosomal recessive albinism subtype caused by mutations in the TYRP1 gene. It leads to reduced pigmentation in hair, skin, and eyes, along with visual problems such as nystagmus and photophobia.
What is the role of the TYRP1 gene?
TYRP1 provides instructions for tyrosinase-related protein 1, which participates in melanin production. Loss-of-function variants reduce pigment synthesis and cause OCA3.
What does this NGS genetic test do?
The test uses next-generation sequencing to read the coding and splice-site regions of the TYRP1 gene to identify small pathogenic variants, and CNV analysis for exonic deletions or duplications.
Which sample is needed for this test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for this test.
Is fasting required before the test?
No. This is a genetic test and fasting is not required.
How long will reports take?
Reports are generally available in 3 to 4 weeks.
What is the cost of the TYRP1 gene OCA3 NGS test?
The special price is Rs 20000 at DNA Labs India, with free home sample collection available across India.
What does a positive test result mean?
Detection of two pathogenic variants in TYRP1, either homozygous or compound heterozygous, confirms the molecular diagnosis of OCA3. Detection of one pathogenic variant in an unaffected individual indicates carrier status.
What does a negative test result mean?
A negative result means no clinically significant TYRP1 variant was detected. It reduces but does not completely exclude TYRP1-related albinism because variants in non-analysed regions or other genes may be present.
Can this test help in family planning?
Yes. Once a familial variant is identified, genetic counseling, carrier testing, and prenatal or preimplantation genetic testing options can be discussed with a clinical geneticist or obstetrician.
Why does DNA Labs India provide raw data with the report?
Raw FASTQ and VCF files provide transparency and allow independent bioinformatics reanalysis, which is important in rare genetic disease management.
Should I share my clinical history before testing?
Yes. A detailed clinical history and pedigree chart are essential for correct test interpretation and genetic counseling.
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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