Specimens should be shipped at room temperature in a leak-proof, rigid container with overnight delivery. To discuss minimum acceptable specimens for neonatal patients or for sample types not listed, please contact Allele Diagnostics.
- Peripheral whole blood in EDTA: 2-3 mL
Dependent upon testing ordered
- Pediatric Molecular Genetics Test Requisition Form
- Please include clinical notes and pedigree.
Gene list selected by client on a case-by-case basis.
Next Generation Sequencing (NGS), including deletion/duplication analysisNGS technologies are used to cover the coding regions of targeted genes plus 10 bases of flanking non-coding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been reported. >97% of target bases are covered at >20x, and mean coverage of target bases >120x. Copy number variants (CNVs) are also detected from NGS data. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported
Comparison between Sanger and NextGen methodologies in the performing laboratory have shown no difference in ability to detect nucleotide substitutions between the two technologies. Deletions greater than 50 nucleotides in length and insertions (duplications) greater than 100 nucleotides in length may not be detected by this technology. Copy Number Variant Analysis: The PGxome test detects most larger deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size (e.g., 1-3 exons vs. 4 or more exons), and inadequate coverage. In general, sensitivity for single, double, or triple exon CNVs is ~70% and for CNVs of four exon size or larger is >95%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.