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GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test

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GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test

Short Name: GPR143 Albinism NGS Test

Also known as: Ocular Type I Albinism, Nettleship-Falls Type Albinism, GPR143-related Albinism

GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type 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. 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 identify mutations in the GPR143 gene that cause ocular albinism, enabling accurate diagnosis, genetic counseling, and personalized management plans to address visual and dermatological concerns.

Test Code
1460
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 (NGS)
Step 1

Sample Collection

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

A blood sample or FTA card sample is collected by a trained phlebotomist in a sterile container.

Step 3

Report Delivery

The sample is securely transported to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss symptoms, family history, and implications of testing.
2
During the Test:A blood or saliva sample is collected; the procedure is minimally invasive.
3
After the Test:The sample undergoes NGS analysis; results are delivered in 3-4 weeks with a detailed report.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GPR143 gene that cause ocular albinism, enabling accurate diagnosis, genetic counseling, and personalized management plans to address visual and dermatological concerns.

How to Prepare

  • Ensure sample is collected in a sterile container
  • Provide accurate clinical history and family information
  • Consider genetic counseling prior to testing

Doctor's Notes

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

"Genetic testing for GPR143 mutations is essential for confirming ocular albinism, enabling early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection
Sample Rejection Criteria:
  • Hemolyzed or contaminated sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of mutations in the GPR143 gene, which are associated with ocular albinism.
Positive result: Pathogenic mutation detected, confirming diagnosis of GPR143-related albinism
Negative result: No mutation detected; consider other genetic or clinical causes
Variant of uncertain significance: Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If you experience symptoms of albinism such as light sensitivity, vision problems, or skin changes, or if genetic test results are abnormal, consult a healthcare provider for management and counseling.

Limitations

  • ⚠May not detect all types of mutations or variants of uncertain significance
  • ⚠Results require interpretation by a genetic counselor or specialist

Risks & Considerations

  • ●Minor discomfort or bruising from blood draw
  • ●Rare risk of infection at the collection site

Interfering Factors

  • ●Sample quality issues such as degradation
  • ●Contamination during collection or processing

Frequently Asked Questions

What is GPR143 Gene Albinism?
GPR143 Gene Albinism is a genetic disorder caused by mutations in the GPR143 gene, leading to reduced melanin production and primarily affecting the eyes, causing ocular albinism type I or Nettleship-Falls type.
What are the common symptoms of this condition?
Common symptoms include pale skin, hair, and eyes, light sensitivity, poor vision, nystagmus, strabismus, refractive errors, reduced depth perception, and increased risk of sunburn and skin cancer.
How is the GPR143 Gene Albinism NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the entire GPR143 gene from a blood or saliva sample, identifying mutations associated with ocular albinism.
What is the cost of the test at DNA Labs India?
The test costs INR 20000, which includes analysis, a detailed report, genetic counseling, and free home sample collection across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive 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 a pathogenic mutation in the GPR143 gene, confirming a diagnosis of ocular albinism and guiding management and genetic counseling.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes in affected individuals; prenatal testing may be possible with appropriate genetic counseling and sample types.
Are there any risks associated with the test?
The test involves minimal risks, such as minor discomfort or bruising from blood draw, with a rare risk of infection at the collection site.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations in the GPR143 gene, but accuracy depends on sample quality and mutation type.
What should I do after receiving the results?
Consult with a healthcare provider or genetic counselor to discuss the results, implications, and management options for albinism.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ and VCF) along with the clinical report for this test.
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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✓ 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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