SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test
Short Name: SLC45A2 OCA4 NGS Genetic Test
Also known as: Oculocutaneous Albinism Type 4 Genetic Test, SLC45A2 Gene Mutation Analysis, OCA4 Next-Generation Sequencing Test, SLC45A2 Albinism NGS Test
SLC45A2 Gene Albinism, Oculocutaneous Type 4 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 Results are typically available within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or exclude a clinical suspicion of oculocutaneous albinism type 4 by detecting pathogenic variants in the SLC45A2 gene. It also helps in carrier testing and reproductive planning when there is a family history of SLC45A2-related albinism.
- Test Code
- 3765
- Price
- ₹20,000
- Sample Type
- Blood or extracted DNA or one drop blood on FTA card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry any previous ophthalmological, dermatological, or genetic counselling records. The clinical history and pedigree details will be collected by a genetic counsellor.
Method: Peripheral venous blood sample or one drop of blood on FTA card or extracted DNA submission
Laboratory Analysis
A small sample of blood is collected by a trained phlebotomist. If an FTA card is used, a single drop of blood is applied to the card.
Report Delivery
There are no activity restrictions after sample collection. The sample is transported to the laboratory for NGS analysis.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or exclude a clinical suspicion of oculocutaneous albinism type 4 by detecting pathogenic variants in the SLC45A2 gene. It also helps in carrier testing and reproductive planning when there is a family history of SLC45A2-related albinism.
How to Prepare
- No special preparation such as fasting is needed.
- Please ensure the sample tube is labelled with the patient's name, date of birth, and collection date.
- If FTA card is used, allow the blood spot to air dry before placing it in the protective pouch.
- Inform the laboratory about any recent blood transfusion or bone marrow transplant.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic confirmation is important in suspected OCA4 to guide visual prognosis, sun protection, and family counselling. A referral to an ophthalmologist and clinical geneticist is recommended."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or visibly haemolysed blood sample
- Insufficient blood volume or inadequate DNA quantity
- Incorrectly labelled or unaccompanied sample
- FTA card improperly dried or contaminated
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant in SLC45A2 was detected, confirming the genetic diagnosis of OCA4.
Negative
No pathogenic variant was detected in SLC45A2. Other albinism genes may need to be considered if symptoms persist.
Carrier
A heterozygous pathogenic variant is present, consistent with carrier status for autosomal recessive OCA4.
Variant of Uncertain Significance (VUS)
A variant was found whose disease association is unknown. Additional family studies may help refine interpretation.
If you or a family member has unexplained skin, hair, or eye hypopigmentation, nystagmus, reduced vision, or a family history of albinism, consult an ophthalmologist and a clinical geneticist for genetic counselling and testing.
Limitations
- ⚠This test is targeted to the SLC45A2 gene only and does not analyse all genes associated with albinism
- ⚠Large genomic rearrangements or copy number changes may not be detected by standard NGS
- ⚠A negative result does not exclude albinism caused by variants in other genes
- ⚠Results should be interpreted by a clinical geneticist or genetic counsellor in combination with clinical findings
Risks & Considerations
- ●Minor pain, bruising, or swelling at the blood collection site
- ●No serious side effects associated with FTA card sample collection
- ●Possible psychological impact of a genetic diagnosis or uncertainty
Interfering Factors
- ●Sample contamination or degraded DNA may interfere with NGS analysis
- ●Rare variants in non-coding regulatory regions may not be detected
- ●Presence of pseudogenes or highly homologous sequences can complicate interpretation
- ●Recent allogeneic bone marrow transplant may affect DNA-based results
Compare With Similar Tests
| Test | SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SLC45A2 gene albinism oculocutaneous type 4 NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
How long will the reports take?
What is Oculocutaneous Albinism Type 4?
Why is NGS technology used?
Will I receive raw data files?
Can this test identify carriers?
Does a negative result rule out albinism?
Who should take this test?
What does a positive result mean?
Is home sample collection available?
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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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