Invitae Septo-optic Dysplasia Panel
Use
The Invitae Septo-optic Dysplasia Panel analyzes genes associated with disorders resulting in septo-optic dysplasia and conditions with similar clinical presentations. It allows for an efficient evaluation of several potential genes based on a single clinical indication, helping confirm a diagnosis and guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
The test evaluates coding exons and adjacent intronic sequences, covering select non-coding variants. Any limitations in the analysis are listed on the report. Broad panel testing allows for a comprehensive assessment of the condition's genetic heterogeneity.
Limitations
The assay may not detect certain structural rearrangements or sequence changes in promoter and non-coding regions unless explicitly stated. Rarely, single-exon copy number events might not be analyzed due to sequence properties or data quality. Some variant details, such as mosaicism, phasing, or mapping ambiguity, may not be resolved.
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)