Test Code: 4791T

CEN4GEN Targeted Medical exome: clinical exome sequencing (Proband only)
Test Code: 4791T
Average Turnaround time: 5 to 6 weeks

CONDITION DESCRIPTION

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 a single individual or proband.

INDICATIONS
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

MEDICAL REPORT

The targeted clinical exome medical report includes:
– primary diagnostics findings
– carrier findings
– genetic health predispositions
– selected pharmacogenomic findings

 METHODOLOGY

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.

DETECTION

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%.

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types

Type: Whole Blood
Specimen Requirements:
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 upon request).

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.