Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion
Use
This test is for individuals with a high clinical suspicion of autosomal recessive disease due to a known intragenic gross deletion in the OCA2 gene, especially when previous genetic testing yielded negative or inconclusive results. It is also suitable for family members of patients who have tested positive for these particular genetic alterations, aiding in understanding hereditary risk.
Special Instructions
The test is performed using targeted PCR methodology and is supported by detailed clinical notes and a completed clinical features checklist. Family members need to specify their relationship to the proband when submitting the request form. STAT testing option is available, shortening the turnaround time for expedited results.
Limitations
This test is specifically designed to detect known intragenic gross deletions in the OCA2 gene. It may not identify other types of mutations such as small indels, single nucleotide variants, or mutations in other genes. Results should be interpreted in the context of comprehensive clinical information. It is important to note that the detection capabilities are limited to the regions targeted by the PCR assay.
Methodology
PCR-based (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided