Our panels include clinically relevant, validated genes, selected from a thorough review of gene curation efforts (Clinical Genomic Database (CGD; National Human Genome Research Institute /NIH), ClinGen – Clinical Genome Resource, DECIPHER/DD2GP, BabySeq Project (G2P), variant databases (HGMD and ClinVar), recent literature and customer requests.

We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. For many difficult-to-sequence genes, including PKD1 and RPGR ORF15 region, we offer excellent coverage with customized bioinformatic analysis that increases the likelihood of identifying a variant in these otherwise challenging regions. Genes with limitations are flagged for your attention.

All of our tests include both sequencing and deletion/duplication (CNV) analysis. This is referred to as Plus Analysis. Sequence analysis is used to detect single nucleotide variants and small insertions / deletions, up to 50-200 base pairs in size. Del/Dup (CNV) analysis is a targeted analysis used to detect larger deletions or duplications (typically one exon or larger). Plus Analysis is the most comprehensive approach and provides the highest overall diagnostic yield, as large deletions and duplications cannot be detected using sequence analysis alone.

Our panels in short:

• Over 220 panels covering 14 different medical specialties.
• Greater than 3,000 clinically relevant genes included
• Entire Mitochondrial genome added to clinically relevant panels (see Mitochondrial disorders)
• ~2,000 known disease-causing deep intronic variants catalogued in the ClinVar and HGMD professional databases have been added to the target region capture
• All panels are filtered out from high-quality sequencing assay with mean sequencing depth of 143x and 99.86% of the nucleotides covered with at least >20x read depth
• A comprehensive analysis including both sequencing and del/dup (CNV)
• The ability to customize up to 200 genes from a selection of 4000 genes and the whole mitochondrial genome.
• The great majority of tests are completed within 28 days
• Our easy ordering and reporting platform Nucleus

High-quality analysis

All panels provide exceptional accuracy for detection of single nucleotide variants (SNVs), insertions and deletions (indels) and copy number variations (CNVs). This is enabled by high-quality sequencing (custom oligo design and Illumina sequencing technology) and Blueprint Genetics proprietary bioinformatic pipeline.

Panel genes have been selected based on following criteria:

• Clinically relevant genomic targets in inherited diseases
• Well-known disease genes based on curated gene reviews and variant databases
• Newly identified disease-causing genes from recent peer-reviewed publications and databases
• Customer requests