C10ORF11 Gene Albinism, Oculocutaneous Type 5 NGS Genetic Test
Short Name: C10ORF11 OCA5 NGS Genetic Test
Also known as: C10ORF11 mutation analysis, LRMDA gene test, OCA5 genetic test, Oculocutaneous albinism type 5 NGS test
C10ORF11 Gene Albinism, Oculocutaneous Type 5 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 Reports are available in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect mutations in the C10ORF11 gene using next-generation sequencing and provide a molecular diagnosis for oculocutaneous albinism type 5, enabling appropriate medical follow-up, visual rehabilitation, and genetic counseling for patients and families.
- Test Code
- 3768
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Fasting is not needed. A referral from the treating physician and a genetic counseling session are recommended before sample collection. Please bring relevant clinical history and family pedigree information.
Method: Venipuncture, FTA card blood spot, or extracted DNA submission
Laboratory Analysis
A small blood sample will be collected by venipuncture, or a blood spot may be placed on an FTA card, depending on the chosen sample type.
Report Delivery
The sample will be securely transported to the laboratory for DNA extraction and NGS analysis. No dietary or activity restrictions are required after sample collection.
Timeline: Reports are available in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the C10ORF11 gene using next-generation sequencing and provide a molecular diagnosis for oculocutaneous albinism type 5, enabling appropriate medical follow-up, visual rehabilitation, and genetic counseling for patients and families.
How to Prepare
- No fasting required.
- A genetic counseling session is recommended before the test.
- Clinical history and family pedigree chart should be provided.
- Sample can be collected at home by a trained phlebotomist.
- Ensure the sample container and requisition form are correctly labelled.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In families with oculocutaneous albinism, preconception and prenatal genetic counseling can clarify recurrence risks and reproductive options. Molecular confirmation is the first step toward comprehensive family care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, hemolyzed, or incorrectly labelled blood sample
- FTA card with insufficient blood sample
- Sample received in an improper transport container
- Missing clinical history, consent form, or referral information
Understanding Your Results
Pathogenic or likely pathogenic variant detected in C10ORF11
Supports the clinical diagnosis of oculocutaneous albinism type 5; genetic counseling is recommended for the family.
Negative for pathogenic variants in C10ORF11
No reportable variant was identified; this does not completely exclude OCA5 and further evaluation may be needed.
Variants of uncertain significance detected
The finding is not diagnostic; additional family studies and clinical correlation are required.
Consult a clinical geneticist, ophthalmologist, or referring physician if you or your family member has features of albinism, a newly identified genetic variant, or questions about recurrence risk and reproductive planning.
Limitations
- ⚠This targeted test analyzes C10ORF11 only; other OCA-related genes are not included.
- ⚠A negative result does not exclude all causes of oculocutaneous albinism.
- ⚠NGS may not reliably detect large deletions, duplications, structural rearrangements, or mosaic variants.
- ⚠Clinical evaluation and family history remain essential for interpretation.
- ⚠Genetic counseling is strongly recommended after test results are available.
Risks & Considerations
- ●Venipuncture may cause temporary discomfort, bruising, or rarely infection.
- ●FTA card blood spot collection is minimally invasive.
- ●No radiation exposure and no significant medical risks are associated with this test.
Interfering Factors
- ●Poor quality or degraded DNA
- ●Insufficient sample quantity
- ●Sample labelling errors
- ●Rare or novel variants of uncertain clinical significance
- ●Variants in deep intronic or regulatory regions may not be detected by standard NGS
Compare With Similar Tests
| Test | C10ORF11 Gene Albinism, Oculocutaneous Type 5 NGS Genetic Test | C10ORF11 OCA5 NGS Test | TYR OCA1 NGS Test | OCA2 NGS Test | SLC45A2 OCA4 NGS Test |
|---|---|---|---|---|---|
| Comparison | C10ORF11 Gene Albinism, Oculocutaneous Type 5 NGS Genetic Test |
Frequently Asked Questions
What is oculocutaneous albinism type 5 (OCA5)?
What does the C10ORF11 gene do?
How is this NGS genetic test performed?
What sample is needed for the test?
Do I need to fast for this test?
Who should consider this test?
Can this test detect other types of albinism?
What is the cost of the test?
How long will the report take?
Will I receive genetic counseling?
What does a negative result mean?
Is home sample collection available?
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