Casandra
Casandra Test Code PG43326Version 1 (DRAFT)
Performing Lab
Lab Prevention GeneticsLab Test ID 10313
Oculocutaneous Albinism and Hypopigmentation Panel
Clinical Use
Order TestUse
This test is for individuals who display relevant features indicative of a clinical or suspected diagnosis of oculocutaneous albinism, ocular albinism, or general hypopigmentation. The panel analyzes 31 genes associated with these conditions, using both Exome and Genome platforms with CNV analysis.
Special Instructions
Not provided.
Limitations
As with any test, there are limitations in coverage and detection. The test may not cover all genetic variations associated with albinism and hypopigmentation. Further genetic counseling and alternative or additional testing may be necessary if results are inconclusive.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided