Invitae Oculocutaneous Albinism Panel
Use
This panel analyzes genes associated with syndromic and nonsyndromic forms of oculocutaneous albinism, characterized by hypopigmentation of hair, skin, and eyes. It provides a broad analysis for inherited oculocutaneous albinism. Genetic testing may confirm diagnosis and guide treatment and management decisions. Furthermore, it aids in recurrence-risk assessment and genetic counseling.
Special Instructions
Broad panel testing allows for efficient evaluation of several potential genes based on a single clinical indication. The genes were selected based on available evidence to provide comprehensive analysis.
Limitations
The test has >99% analytical sensitivity and specificity for certain variants but may not detect all variations. It does not cover sequence changes in promoters, non-coding exons, or other non-coding regions unless specified. Some structures such as inversions or translocations may not be detected, and occasionally certain sequence properties might limit analysis.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
Purple-top EDTA tube (K2EDTA or K3EDTA)