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SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic Test

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SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic Test

Short Name: SLC45A2 OCA4 NGS Test

Also known as: Albinism, oculocutaneous, type IV, SLC45A2-related albinism, OCA4 genetic test

SLC45A2 Gene Albinism, oculocutaneous type 4 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 the SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test is to diagnose OCA4 by detecting mutations in the SLC45A2 gene using Next Generation Sequencing technology. This aids in confirming the clinical diagnosis, understanding the genetic basis, guiding management strategies, and providing genetic counseling for affected individuals and their families.

Test Code
4824
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with OCA4. No fasting is required.

Method: Venipuncture for blood samples

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture, or a drop of blood on an FTA card, or extracted DNA is provided. The process is minimally invasive and takes a few minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical history review are required before sample collection.
2
During the Test:Sample collection via blood draw or FTA card, followed by NGS analysis in the lab.
3
After the Test:Results are available in 3-4 weeks. Genetic counseling is provided to discuss findings.

About This Test

Who Should Get This Test

The purpose of the SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test is to diagnose OCA4 by detecting mutations in the SLC45A2 gene using Next Generation Sequencing technology. This aids in confirming the clinical diagnosis, understanding the genetic basis, guiding management strategies, and providing genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Store samples at ambient room temperature as specified
  • Transport samples to the lab promptly

Doctor's Notes

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

"Early genetic diagnosis of OCA4 through NGS testing allows for timely management, genetic counseling, and informed family planning. Consult a geneticist for personalized care."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples not stored as per instructions

Understanding Your Results

Results from the SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the SLC45A2 gene. Positive results confirm OCA4 diagnosis, while negative results may require further testing or clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of OCA4. Genetic counseling recommended for management and family planning.

📊

Negative for pathogenic variant

OCA4 unlikely, but other genetic causes may be considered. Consult a geneticist for further evaluation.

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation needed. Genetic counseling advised to discuss implications.

⚠️ When to Consult a Doctor:

Consult a doctor or geneticist if you experience symptoms of albinism, have a family history of OCA4, or receive positive or uncertain test results for guidance on management, sun protection, and genetic counseling.

Limitations

  • ⚠May not detect all possible genetic variants or mutations
  • ⚠Results may include variants of uncertain significance (VUS)
  • ⚠Does not rule out other types of albinism or genetic disorders
  • ⚠Interpretation requires clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Degraded or low-quality DNA samples
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions may affect DNA analysis

Compare With Similar Tests

TestSLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic TestTYR Gene Albinism NGS TestOCA2 Gene NGS TestComprehensive Albinism Panel
ComparisonSLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic Test

Frequently Asked Questions

What is Oculocutaneous Albinism Type 4 (OCA4)?
OCA4 is a genetic disorder caused by mutations in the SLC45A2 gene, leading to reduced melanin production and affecting skin, hair, and eye pigmentation.
How is OCA4 diagnosed?
OCA4 is diagnosed through genetic testing, such as the SLC45A2 Gene NGS Test, which identifies mutations in the SLC45A2 gene.
What are the symptoms of OCA4?
Symptoms include very light skin, white or light hair, light eye color, vision problems like nystagmus, and increased sensitivity to light.
What is the cost of the SLC45A2 Gene NGS Test at DNA Labs India?
The test costs INR 20,000, which includes genetic counseling and home sample collection.
Is genetic counseling included with the test?
Yes, genetic counseling by expert geneticists is included to help interpret results and provide guidance.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What does a positive test result mean?
A positive result confirms a diagnosis of OCA4 due to pathogenic mutations in the SLC45A2 gene.
Can this test detect other types of albinism?
No, this test specifically targets OCA4. For other types, additional genetic tests may be required.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as slight pain or bruising. Genetic testing itself poses no significant risks.
How should I prepare for the test?
No fasting is required. Provide clinical history and attend a genetic counseling session before sample collection.
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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