CEN4GEN Targeted Medical exome: clinical exome sequencing (Additional Family Member)
Test Code: 1738T
Average Turnaround time: 5 to 6 weeks
CEN4GEN uses a molecular genomic-based platform for the targeted gene sequencing of 5600 genes that are associated with genetic diseases, including cancer, and/or medically actionable genes, as part of a comprehensive diagnostic, carrier and pharmacogenomic screen. This is a test for an additional family member. The additional family member’s specimen must be included with the proband only or family trios samples, at the time of testing.
This test is indicated for:
- Comprehensive carrier screening /Family planning
- Individuals or couples seeking to assess reproductive risk for a variety of common genetic medical conditions
- Individuals or couples of high-risk ethnic groups or backgrounds
- Comprehensive diagnostic screening of genetic medical conditions, especially when there is a suspicion of a genetic etiology contributing to the proband’s manifestations.
- Selected Pharmacogenomic screening
The comprehensive clinical exome medical report includes:
– primary diagnostics findings
– carrier findings
– genetic health predispositions
– selected pharmacogenomic findings
Next Generation Sequencing: In-solution hybridization of the regions encompassing exonic as well as select intronic, upstream and downstream regulatory sequences of 5600 genes, is performed on the patient’s genomic DNA. Direct sequencing of the captured regions is performed using next generation sequencing (NGS). The patient’s gene sequences are then compared to a standard reference sequence. All sequence variants are evaluated using current scientific data to identify pathogenic, likely pathogenic variants, variants of unknown significance (VOUS) and carrier status; as well as pharmacogenomic relevance. Benign and likely benign variants are identified and classified using the latest published, scientific data are not listed in the report. Variants of unknown significance (VOUS) that are either synonymous or outside coding regions are classified as likely benign.
Next Generation Sequencing: Clinical Sensitivity: (unknown). Pathogenic variants in regions other than the targeted area, cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
In EDTA (purple top) tube:
Infants (2 years): 3-5 ml
Older Children & Adults: 5 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Saliva Specimen
Requirements: Oragene™ kit (available from CEN4GEN by request).
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.