Test Code | Test Name | TAT | Genes |
---|---|---|---|
Test Code: 9810 | Test Name: TumorNext- BRCA |
TAT
|
Genes: 2 |
Test Code: 9811 | Test Name: TumorNext-HRD® |
TAT
|
Genes: 11 |
Test Code: 9814 | Test Name: TumorNext-HRD plus BRCANext-Expanded | TAT | Genes: 24 |
Test Code: 9813 | Test Name: TumorNext-HRD plus CancerNext® |
TAT
|
Genes: 37 |
for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.
Order Now*excludes Secondary Findings and SNP Array tests
TumorNext-HRD can detect and differentiate between germline and somatic mutations in homologous recombination repair genes including BRCA1 and BRCA2 so that you can:
All patients diagnosed with ovarian cancer may benefit from TumorNext-HRD
TumorNext-HRD targets detection of germline and somatic variants in genes in the homologous recombination repair pathway (ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MRE11A, NBN, PALB2, RAD51C, and RAD51D). Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen(s) using standardized methodology and quantified. For FFPE section, one thin (5 micron) tissue section is first cut and stained with hematoxylin and eosin (H&E). The H&E slide is examined by a pathologist to determine tissue quantity/quality and neoplastic cellularity (20% minimum). Sequence enrichment of the germline and tumor sample for the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and Next-Generation sequencing (NGS). The bioinformatics pipeline performs paired analysis of sequence data from both tumor and germline specimens to differentiate variants of somatic origin from germline origin. Optimized variant calling filters require a read coverage depth of >100X for tumor and > 20X for matched control blood DNA. For molecular analysis of variants of germline origin only, additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Suspect variant calls of germline origin other than those classified as "likely benign" or "benign" detected on the paired analysis are verified by Sanger sequencing. The BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) is detected by multiplex ligation-dependent probe amplification (MLPA). Germline gross deletion/duplication analysis of all sequenced genes is performed using targeted chromosomal microarray with confirmatory MLPA when applicable.
Hennessy BTJ, et al. JCO. 2010 Aug 1;28(22):3570-6
Pennington KP et al. Clin Cancer Res. 2014 Feb 1;20(3):764-75
Banerjee S & Kaye S. Curr Oncol Rep. 2011 Dec;13(6):442-9
Burgess M & Puhalla S. Front Oncol. 2014 Feb 27;4:19
Yamamoto KN et al. PLoS One. 2014 Aug 26;9(8):e105724
Moore et al. NEJM 2018 Oct 21 (Epub ahead of print)
Ledermann, et al. Lancet Oncol. 2014;15(8):852-861
Pujade-Lauraine, et al. Lancet Oncol. 2017;18:1274-1284
Mirza, et al. N Engl J Med. 2016;375:2154-2164
Coleman RL, et al. Lancet. 2017 Oct 28;390(10106):1949-1961
Swisher, et al. Lancet Oncology 2017 18: 75-87
SGO Clinical Practice Statement: Genetic Testing for Ovarian Cancer. October 2014