Invitae Corneal Dystrophies Panel
Use
The Invitae Corneal Dystrophies Panel analyzes genes associated with corneal dystrophies, characterized by cloudy or blurred vision, light sensitivity, dry or itchy eyes, and sensation of something in the eye. This genetic test helps confirm a diagnosis and guide treatment decisions. It also informs recurrence-risk assessment and genetic counseling. Broad panel testing allows for an evaluation of several potential genes associated with inherited corneal dystrophies, where phenotype alone may not be sufficient to determine the cause due to genetic heterogeneity.
Special Instructions
The test is New York approved. Invitae is a CAP-accredited and CLIA-certified clinical diagnostic laboratory. It provides full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology.
Limitations
This assay has >99% analytical sensitivity and specificity for single nucleotide variants and small insertions/deletions, but sensitivity for longer indels and single-exon copy number events may be marginally reduced. Structural rearrangements or complex sequences might not be detected. Certain non-coding regions are not covered and limitations will be listed on the report. DNA from blood may not reflect the patient's genome in certain cases like recent transfusions or transplants.
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)