Invitae Inherited Retinal Disorders Panel
Use
The Invitae Inherited Retinal Disorders Panel analyzes genes associated with inherited retinal disorders, including retinitis pigmentosa, cone-rod dystrophy, and Leber congenital amaurosis. The genetic heterogeneity of these conditions makes it difficult to use phenotype as the sole criterion for determining the cause. Broad panel testing allows for efficient evaluation of multiple potential genes based on a single clinical indication, and may help confirm a clinical diagnosis, provide recurrence-risk estimation, and assist genetic counseling.
Special Instructions
In addition to insurance and patient-pay options, the test is available through a sponsored no-charge program. The panel includes the RPGR gene, including exon 15 (ORF15), which is associated with X-linked retinitis pigmentosa. Some genes may be related to additional unrelated disorders not included in the test list.
Limitations
The test's analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions 99%. Complexity in detecting variants like structural rearrangements or complex sequence architectures is noted. Single-exon copy number events may face analysis limitations due to sequence properties or data quality. Promoter, non-coding exons, and non-coding regions are generally not covered unless stated. This may not represent the patient's constitutional genome in rare cases like hematolymphoid neoplasm or bone marrow transplant.
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)