Invitae Exome, Trio
Use
The Invitae Exome, Trio test is designed to identify gene and variant combinations that may support the diagnosis of patients with rare genetic disorders. This test evaluates almost all protein-coding genes in the human genome, detecting single nucleotide variants, small insertions, deletions, and intragenic copy number variants. The results help elucidate the genetic underpinnings of a patient's condition and include a routine case-level reanalysis to ensure variants most relevant to the patient's case are identified.
Special Instructions
Not provided.
Limitations
The test does not detect or report structural rearrangements, large CNVs, regions of homozygosity, indels >50bp, mosaic/somatic events, or variants with high sequence complexity, such as those in pseudogenes or repetitive regions. In some instances, particularly small single-exon copy number events may not be analyzed due to limitations in sequence properties or data quality. The assay does not include non-human contaminants, and therefore, whole blood is recommended to avoid sample quality issues.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
6-8 weeks
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