Specimen Collection 8 mL Adult EDTA Blood
A minimum of 0.5ml can be processed. However, sufficient DNA for downstream testing cannot be guaranteed if less than 4.0ml blood is collected.
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
Turnaround Time: 8 weeks Assay Method
TEST METHOD: Next Generation Sequencing (NGS): Capture-based target enrichment is performed using the CE-IVD SOPHiA Genetics Hereditary Cancer Solution v1.1. Sequencing is performed on an Illumina MiSeq platform. Data analysis is performed using the SOPHiA DDM software. Reported variants are confirmed using an orthogonal method.
TARGET GENES AND COVERAGE: The coding regions and flanking +/-20bp (encompassing the splice sites) of the listed genes are sequenced in this test. 100% coverage of bases within these regions is achieved by NGS (to a minimum depth of 50x) or by Sanger-based sequencing.
Gene Reference Sequences ATM LRG_135t1 (NM_000051.3, NP_000042.3) BRCA1 LRG_292t1 (NM_007294.3, NP_009225.1) BRCA2 LRG_293t1 (NM_000059.3, NP_000050.2) PALB2 LRG_308t1 (NM_024675.3, NP_078951.2) PTEN LRG_311t1 (NM_000314.4, NP_000305.3 TP53 LRG_321t1 (NM_000546.5, NP_000537.3)
Contact Molecular Genetics via:
Lablink ext 22000
Mark Greenslade (Technical Head) ext 22010
Pippa Grainger (Section leader) ext 22014
For more information about the Molecular Genetics service:
Molecular Genetics information page