Invitae Usher Syndrome Panel
Use
Genetic testing for genes associated with Usher syndrome, which is characterized by sensorineural hearing loss and vision loss that worsens over time. This panel also includes genes for other conditions like PHARC and PEX1- and PEX6-related Zellweger spectrum disorder. Genetic testing may confirm diagnosis, guide treatment, management decisions, and inform genetic counseling and recurrence-risk assessment.
Special Instructions
Not provided.
Limitations
This test may not detect certain types of genetic variants, such as structural rearrangements, gene conversion events, or variants in complex sequence regions. Analysis does not cover promoter, non-coding exons, or other non-coding regions unless explicitly stated. Sensitivity for insertions and deletions larger than 15bp but smaller than a full exon may be marginally reduced.
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)
Other tests from different labs that may be relevant