The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793). For gene-associated cancer risks, download our Cancer risk poster. The PRSS1 gene is associated with autosomal dominant hereditary pancreatitis (Medgen UID: 116056). Genetic testing for biallelic pathogenic variants in EPCAM, MLH1, MSH2, MSH6, and PMS2 which can cause constitutional mismatch repair-deficiency (CMMR-D). Features include café-au-lait macules, neurofibromas, axillary/inguinal freckling, and Lisch nodules. Genetic testing for 7 genes associated with hereditary hyperparathyroidism (HPT) and parathyroid tumors/cancer. Invitae’s reference guide offers more information about which prostate cancer patients should be considered for genetic testing and how results impact treatment decisions. The REST gene is associated with autosomal dominant predisposition to Wilms tumor (PMID: 26551668, 9771705). The primary panel includes 14 genes associated with hereditary breast cancer. Get helpful information to guide important health decisions before, during and after pregnancy. MRE11 The NBN gene is associated with autosomal dominant predisposition to breast cancer and possibly ovarian, endometrial, and prostate cancer (PMID: 31406321, 26720728, 30733081, 29988077, 30730552, 23149842, 31322208). There are data suggesting CDC73 may also be associated with autosomal dominant predisposition to malignant uterine tumors (PMID: 23293331, 12434154, 23029104). Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single The average woman’s lifetime risk of developing breast cancer is 12%. Your test results will be delivered as two reports. Get answers to frequently asked questions about the genetic testing process, results, and more. The BMPR1A gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518). Report delivery is guaranteed within 5-12 calendar days (7 days on average) of Invitae receiving the sample. The data, however, are preliminary and insufficient to make a determination regarding this relationship. The ERCC4 gene is associated with autosomal recessive Fanconi anemia, type Q (MedGen UID: 815318) and xeroderma pigmentosa, group F (XPF) (MedGen UID: 120612). To demonstrate the value of multi-gene panels in hereditary cancer risk assessment, Invitae has collaborated with several preeminent research hospitals on studies comparing the clinical actionability of multi-gene panels to traditional single-gene testing. Invitae is rapidly growing genetic information company headquartered in San Francisco. Invitae Common Hereditary Cancers Panel; Invitae Multi-Cancer Panel The KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome (PMID: 24694336), neuroblastoma (PMID: 18614535, 18334619, 24469107), and Charcot-Marie-Tooth disease (CMT) (PMID: 30373780). RECQL Genetic testing for DICER1 which is associated with DICER1 syndrome, a tumor syndrome. PTEN: Deletion/duplication analysis covers the promoter region. 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), Saliva, assisted saliva, buccal swab and gDNA, New York Approved: The DICER1 gene is associated with autosomal dominant DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 449020). The RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 266045). Genet. details regarding regions or types of variants that are covered or excluded for this test. Genetic testing for hereditary diffuse gastric cancer syndrome (HDGC), is also associated with an increased risk of gastric and lobular breast cancer. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. Park, DJ, et al. Genetic testing for the gene GATA2, which is associated with autosomal dominant familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) and other non-hematological symptoms, including immunodeficiency and lymphedema. The data, however, are preliminary and insufficient to make a determination regarding these relationships. The PALB2 gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 25099575, 31841383) and ovarian cancer (PMID: 30733081) and autosomal recessive Fanconi anemia (MedGen UID: 372133). The XRCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to breast cancer (PMID: 22464251, 25452441) and autosomal recessive Fanconi anemia (PMID: 22232082). The data, however, are insufficient to make a determination regarding these relationships. 1994; 343(8899):692-5. doi: 10.1136/jmg.31.6.504-d. Ford, D, et al. The Invitae Multi-Cancer Panel analyses 83 genes associated with hereditary cancers across eight major organ systems. STAT turnaround time panels cannot be further customized or combined with any other panel or gene(s). Multi-Cancer Panel. RINT1 These efforts may result in risk-reduction and early diagnosis, increasing the chances of successful treatment and survival. Genetic testing for CDC73, which is associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, parathyroid carcinoma, and familial isolated hyperparathyroidism (FIHP). The Invitae Common Hereditary Cancers Panel analyzes 47 genes associated with cancers of the breast, ovary, uterus, prostate, and gastrointestinal system, which includes the stomach, colon, rectum, small bowel, and pancreas. The evidence, however, is preliminary and insufficient to make a determination regarding these relationships. resolution at virtually all targeted exons. Am. Madanikia, SA, et al. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. J. Genetic testing for 19 genes associated with hereditary gastric cancer. Am. Cancer Res. Germline sequencing using a next-generation sequencing panel of 83 genes (84 genes as of July 2019) on the Invitae Multi-Cancer Panel was offered at no cost. The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553). YES, Panel details and technical assay limitations, Invitae Breast Cancer Guidelines-Based Panel. Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Genetic testing for HRAS, the gene associated with Costello syndrome—characterized by coarse facial features, intellectual disability, failure to thrive, and childhood malignancy. The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. RECQL added as a preliminary evidence gene; Invitae Prostate Cancer Panel Antoniou, A, et al. Genet. 1998; 62(3):676-89. doi: 10.1086/301749. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow The AP2S1 gene is associated with autosomal dominant familial hypocalciuric hypercalcemia type 3 (FHH3) (MedGen UID: 322173). analyzed due to inherent sequence properties or isolated reduction in data quality. 90% of the gene’s target nucleotides are covered at >20x with mapping quality score (MQ>20) reads), and/or the gene has exons listed under Test limitations section that are not included in the panel as they are not sufficiently covered with high quality sequence reads. If you have any questions, we have an exceptional Client Services team to assist you. Genetic testing for 19 genes that are defined by medical guidelines as conferring specifically actionable risk of developing colorectal and other cancers. 2006; 119(2):472-5. 2014; 16(3):R58. Studies have suggested a correlation with PALB2 and autosomal dominant predisposition to prostate (PMID: 17287723) and male breast cancer (PMID: 31841383). 2010; 105(6):1258-64; author reply 1265. Additionally, there is preliminary evidence supporting a correlation with MVA and colon cancer (PMID: 21190457). CHEK2 A. Genetic testing for BAP1 which is associated with BAP1 hereditary cancer predisposition syndrome. The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122). Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. There is also preliminary evidence supporting a correlation with PIK3CA and autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288, 22729224, 24497998). The Science Behind Invitae’s Products. © Invitae Corporation. The data, however, are preliminary and insufficient to make a determination regarding this relationship. The GEN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to prostate cancer (PMID: 27433846). Genetic testing for BLM, which is associated with Bloom syndrome. The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945). Additionally, evidence of varying degrees suggests a possible association between RB1 and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046). The data, however, are are insufficient to make a determination regarding this relationship. 2011; 12(5):477-88. 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