OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic Test
Short Name: OCA2 NGS Genetic Test
Also known as: OCA2 Gene Sequencing Test, Oculocutaneous Albinism Type 2 Genetic Test, OCA2 Mutation Analysis, P Gene Albinism Test, OCA2 NGS Panel
OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at 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 3, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the OCA2 gene through Next-Generation Sequencing to confirm a clinical diagnosis of oculocutaneous albinism type 2, determine carrier status in family members, guide genetic counselling and family planning decisions, and enable appropriate clinical management including visual rehabilitation and photoprotection strategies.
- Test Code
- 4822
- CPT Code
- 81479
- ICD Code
- E70.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, Sanger Confirmation (if required)
Sample Collection
No special preparation such as fasting is required. A clinical history of the patient and a pedigree chart of family members affected with OCA2 gene albinism should be prepared. A genetic counselling session is recommended prior to sample collection to discuss the implications of testing.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample will be labelled, sealed, and transported under ambient room temperature conditions to the laboratory.
Report Delivery
The sample is processed in the molecular genetics laboratory where DNA is extracted, library preparation is performed, and NGS sequencing is carried out. Results are typically available within 3 to 4 weeks. The clinical report along with raw data files (FASTQ and VCF) will be shared with the patient or referring physician.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the OCA2 gene through Next-Generation Sequencing to confirm a clinical diagnosis of oculocutaneous albinism type 2, determine carrier status in family members, guide genetic counselling and family planning decisions, and enable appropriate clinical management including visual rehabilitation and photoprotection strategies.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer under aseptic conditions
- Alternatively, use one drop of blood on an FTA card or submit extracted DNA
- Label the sample clearly with patient name, date of birth, and unique identification number
- Store and transport the sample at ambient room temperature (15-30°C)
- Avoid haemolysed or clotted blood samples
- Include the completed test requisition form with clinical history and family pedigree
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Oculocutaneous albinism type 2 is the most prevalent form of albinism worldwide. Early genetic confirmation through NGS testing allows for timely intervention including visual rehabilitation, rigorous photoprotection strategies, and genetic counselling for affected families. I recommend this test for any patient presenting with generalized hypopigmentation of skin and hair accompanied by ocular features such as nystagmus, photophobia, or reduced visual acuity. Identifying the specific OCA2 mutation also enables accurate carrier testing and prenatal planning for families with a history of albinism."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed, clotted, or insufficient sample volume
- Unlabelled or mislabelled samples
- Samples without completed requisition form or clinical history
- Samples collected in incorrect anticoagulant (e.g., heparin tubes)
- Severely degraded DNA with insufficient quality metrics
Understanding Your Results
No Pathogenic Variants Detected
No pathogenic or likely pathogenic variants were identified in the OCA2 gene. This result reduces the likelihood of OCA2 but does not exclude albinism caused by mutations in other genes or undetectable variant types. Clinical correlation and additional testing may be warranted.
Pathogenic or Likely Pathogenic Variants Detected (Homozygous)
Two copies of the same pathogenic variant were identified in the OCA2 gene, consistent with autosomal recessive oculocutaneous albinism type 2. This confirms the molecular diagnosis of OCA2. Genetic counselling is recommended for the patient and family members.
Pathogenic or Likely Pathogenic Variants Detected (Compound Heterozygous)
Two different pathogenic variants were identified on separate alleles of the OCA2 gene, consistent with compound heterozygous OCA2. This confirms the molecular diagnosis. Parental testing may be recommended to confirm the trans configuration of variants.
Single Pathogenic Variant Detected (Carrier Status)
Only one pathogenic variant was identified, suggesting the individual is a carrier of OCA2. Carriers are typically unaffected but have a 50% chance of passing the variant to offspring. Partner testing and genetic counselling are recommended.
Variant of Uncertain Significance (VUS) Identified
A variant was detected whose clinical significance cannot be definitively determined with current evidence. This result is not diagnostic. Family studies, functional data, and periodic reclassification may help clarify the significance. Clinical correlation is essential.
Consult a dermatologist, ophthalmologist, or clinical geneticist if you or your child exhibits signs of albinism including very light skin and hair that does not darken with age, eyes that appear blue, grey, or light-coloured, involuntary eye movements (nystagmus), sensitivity to bright light (photophobia), reduced vision or squinting, or frequent sunburns. Early diagnosis enables appropriate visual support, sun protection strategies, and genetic counselling for family planning.
Limitations
- ⚠This test analyses only the OCA2 gene and does not screen for mutations in other albinism-associated genes (TYR, TYRP1, SLC45A2, etc.) unless specifically ordered as a panel
- ⚠Deep intronic mutations, regulatory region variants, and large deletions/duplications may not be fully detected by NGS alone
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠A negative result does not completely exclude the possibility of albinism caused by mutations in other genes or undetected variants
- ⚠This test is not validated for prenatal diagnosis from chorionic villus sampling or amniotic fluid without prior validation
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Emotional impact of receiving a genetic diagnosis
- ●Potential identification of variants of uncertain significance that may cause anxiety
- ●Implications for family members who may be carriers or affected
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing coverage
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Contamination during sample collection or transport may compromise results
- ●Presence of large genomic rearrangements or copy number variations not detectable by standard NGS may require additional testing
Compare With Similar Tests
| Test | OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic Test | OCA1 (TYR Gene) NGS Test | Comprehensive Albinism Gene Panel | Sanger Sequencing for OCA2 |
|---|---|---|---|---|
| Comparison | OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic Test | OCA1 is caused by mutations in the TYR gene and typically presents with a more severe phenotype including complete absence of melanin. OCA2 may retain some pigmentation. Both tests use NGS but target different genes. | A comprehensive panel tests multiple albinism-associated genes (OCA2, TYR, TYRP1, SLC45A2, etc.) simultaneously. This is recommended when the specific type of albinism is unclear from clinical presentation alone. | Sanger sequencing targets specific known variants or exons. NGS provides broader coverage of the entire gene with higher throughput and sensitivity for detecting novel variants, making it the preferred method for comprehensive analysis. |
Frequently Asked Questions
What is the OCA2 Gene Albinism NGS Genetic Test?
Who should get the OCA2 Gene Albinism NGS Genetic Test?
What sample is required for the OCA2 Gene Albinism NGS Genetic Test?
How much does the OCA2 Gene Albinism NGS Genetic Test cost in India?
How long does it take to get the OCA2 Gene Albinism NGS Genetic Test results?
Is the OCA2 Gene Albinism NGS Genetic Test covered by health insurance in India?
What is the difference between OCA2 and other types of albinism?
Can OCA2 gene albinism be detected before birth?
What does it mean if the test detects a Variant of Uncertain Significance (VUS)?
Does DNA Labs India provide raw sequencing data with the test report?
Is home sample collection available for the OCA2 Gene Albinism NGS Genetic Test?
What is the inheritance pattern of OCA2 gene albinism?
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