Whole Exome Sequencing Panel (WES+)
A comprehensive diagnostic sequencing test covering all protein-coding genes of the nuclear genome, full mitochondrial analysis, and genome-wide copy number assessment, powered by the Helix Exome® platform. Available as Proband, Duo, or Trio.
Turnaround
~3-5 weeks
Requery (SOQO)
~1-3 weeks
Genes Tested
All from Helix test menu
Test Descripiton
The Helix Whole Exome+ Sequencing test evaluates the coding regions of the human genome, including the mitochondrial genome, to identify genetic variants associated with the clinical features described at ordering. This test is available as Proband (EXPR1), Duo (EXDU1), or Trio (EXTR1). When parental samples are provided (using EPAR1 for ordering in the EHR), segregation analysis is performed to aid in variant interpretation. Mitochondrial genome analysis is included by default, with heteroplasmy detection at ≥2% for blood and buccal specimens and ≥3% for saliva. Genome-wide copy number analysis is also included to evaluate for clinically relevant copy number variants across the genome, independent of HPO terms.
Order This Test
Contact our clinical team to order this panel or learn more.
Indications for Testing
Individuals with clinical features suggestive of a genetic etiology where broad genetic evaluation is clinically indicated.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with the clinical features described at ordering. Data is aligned to GRCh38 and analyzed using MANE and MANE Plus Clinical transcripts. The mitochondrial genome is sequenced and analyzed for variants. Genome-wide copy number analysis is also performed to detect clinically significant large-scale copy number changes, independent of the clinical features provided at ordering. Variant interpretation is performed in accordance with ACMG/AMP guidelines and ClinGen Variant Curation Expert Panel modifications.
Technical Specifications
Methodology
Exome+® NGS (exome capture + deep intronic coverage in key regions + relevant promoters and inversions).
Analytical Sensitivity (SNV)
> 99.9%
Analytical Sensitivity (Indel)
> 99%
Analytical Specificity
> 99%
CNV Sensitivity (multi-exon)
Majority of CNVs spanning ≥3 exons reliably detected
Coverage Depth
99% of clinically relevant regions at ≥20x
Mitochondrial Heteroplasmy Detection
≥2% (blood/buccal), ≥3% (saliva)
Digital Karyotype
Genome-wide SNP tiling for detection of chromosomal microdeletions
Genomic Build
GRCh38
Genes Tested
All protein-coding genes in the human nuclear genome are evaluated. Analysis and reporting are guided by the clinical features (HPO terms) described at ordering. The mitochondrial genome is also analyzed.
Ordering Information
Turnaround Time
Typically 3 to 5 weeks from sample receipt (standard). Typically 1 to 3 weeks (requery).
Preferred Specimen
BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL · Mawi iSWAB®-DNA Collection Kit (SD-T-1200FXL). Saliva is also available as a limited offering.
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical Description
Whole exome sequencing evaluates the protein-coding regions of the genome, which comprise approximately 1–2% of the genome but harbor an estimated 85% of disease-causing variants. This test is designed for individuals with clinical features suggestive of a genetic condition, including but not limited to developmental delay, intellectual disability, congenital anomalies, neurological conditions, and other suspected Mendelian disorders. The analysis is guided by the clinical features provided at the time of ordering. Identification of a pathogenic variant may establish a molecular diagnosis, may inform prognosis and management, and facilitate genetic counseling for the patient and their family members. Mitochondrial genome analysis and genome-wide copy number analysis are included by default. When parental samples are provided (Duo or Trio), segregation analysis is performed to aid in variant interpretation.
Ready to order WES+?
Contact our clinical team to place an order or learn more about bringing WES+ to your patients.