Mutation analysis is performed using the Agilent® SureSelect® XT enrichment method and Illumina® next generation sequencing (NGS) platform. Regions of interest include all exons and splice junctions for each gene. Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Analytical sensitivity is based on the depth of coverage across the regions of interest and is provided separately for each gene. Greater than 98% of target bases are covered at greater than or equal to 20x coverage. Sanger sequencing is used to confirm mutation identity and analyze regions with low coverage. Variants are reported using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS) SureSelect® is a registered trademark of Agilent Technologies. Agilent® is a registered trademark of Agilent Technologies. Illumina® is a registered trademark and registered service mark of Illumina Inc.
81223; 81404(x10); 81405(x17); 81406(x23); 81407(x4); 81408(x5); 81479
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
Maintain specimen at room temperature or refrigerate at 4°C.
142-gene panel that includes >114 diseases for the most complete screening
Variants known to be benign and synonymous variants not previously recorded in our internal variant database are not reported. This analysis does not detect germline mosaicism, and does not rule out the presence of large chromosomal aberrations including deletions, insertions, and rearrangements, or mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.
Pan-ethnic Carrier Screening