Oculocutaneous Albinism and Hypopigmentation Panel
Use
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
Ensure that the appropriate specimen is collected based on the chosen platform (Exome or Genome). Consider ordering additional family testing if needed.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided