Invitae Macular Dystrophy Panel
Use
The Invitae Macular Dystrophy Panel analyzes genes associated with macular dystrophy and conditions with similar clinical presentations. These disorders are characterized by central vision loss and atrophy of the macula and underlying retinal pigment epithelium. The genetic heterogeneity of these conditions can complicate diagnosis using phenotype alone. A broad panel approach allows the evaluation of several potential genes based on a single clinical indication. This test can assist in identifying genetic causes of macular dystrophy beyond phenotypic criteria.
Special Instructions
This test's coverage includes coding exons and 10-20 base pairs of adjacent intronic sequences, along with select non-coding variants. Sequence changes in non-coding regions like the promoter or non-coding exons are typically not included. The report will detail any limitations of the gene analysis.
Limitations
The test predominantly detects single nucleotide variants, insertions, and deletions under 15bp with >99% sensitivity and specificity. Sensitivity may be reduced for larger insertions and deletions not spanning entire exons, and certain variants like structural rearrangements may not be detected. Single-exon copy number events might not be analyzed due to inherent sequence properties or data quality issues. Additionally, factors like mosaicism, phasing, or mapping ambiguity may not always be resolvable.
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)