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New and Improved Hereditary Cancer Panels As We Are All Too Familiar, Cancer Is Common Newsletter for health care providers regarding services from the Human Genetics Laboratory at UNMC New and Improved Hereditary Cancer Panels As we are all too familiar, cancer is common. Most cancers are classified as sporadic, occurring by chance as a result of a combination of genes and environmental factors. However, a portion of cancer is hereditary. This means that an individual has a predisposition to developing cancer in his or her lifetime because of a disease-causing genetic change in a gene known to be associated with specific cancer types. Over the past several years, our laboratory has offered hereditary cancer panel testing to identify genetic changes that are known or suspected to be disease causing, as this information can help to inform cancer screening and prevention strategies. We have made some recent updates in this area of our test menu to better meet patient needs: • Due to updated guidelines from the National Comprehensive Genes Included Cancer Network (NCCN), we have expanded our high risk breast cancer panel from seven to nine genes in order to include ∆ Breast9 CHEK2 and ATM. This panel can be ordered as our Breast9 + Breast|Ovarian17 Hereditary Cancer Panel. We understand that, despite the expanded content, time is of the essence for these patients; we ∆ + ATM + BRIP1 will continue to ensure results within 2-3 weeks. ∆ + BRCA1 + EPCAM ∆ + BRCA2 + MLH1 • We now offer a Breast|Ovarian17 Hereditary Cancer Panel that includes 17 clinically-actionable genes known to increase the risk ∆ + CDH1 + MSH2 1 for breast and ovarian cancers. The results from this study are ∆ + CHEK2 + MSH6 available in less than 4 weeks. ∆ + PALB2 + PMS2 • We launched a Comprehensive Hereditary Cancer Panel that ∆ + PTEN + RAD51C includes 58 genes known to increase the risk for multiple types ∆ + STK11 + RAD51D of cancer. This test may be most useful for individuals with a personal and/or family history that suggests the possibility of ∆ + TP53 multiple underlying syndromes (e.g., ovarian cancer and colon Please visit our website for more polyposis; breast cancer and neuroendocrine tumors). Results information about the gene content from this 58 gene panel are available in less than 6 weeks. of all hereditary cancer panels. ALL AVAILABLE PANELS: Ashkenazi Jewish founder mutation, Breast9, Breast/Ovarian17, Breast/Ovarian/Uterine26, Colorectal20, Endocrine/Paraganclioma-Pheochromocytoma17, Neuro17, Pancreatic14, Renal19, Comprehensive58 Regardless of the panel ordered, our approach to hereditary cancer testing is two-fold: DNA sequence analysis and high resolution deletion/duplication assessment. This testing is performed on peripheral blood collected in an EDTA tube or on DNA extracted from buccal mucosa. - Please contact our marketing specialist (402-559-6935 or [email protected]) for specimen collection kits or test-specific patient brochures. UNMC Human Genetics Laboratory Newsletter | 2016 vol 1 CLIENT SERVICES - A Team Focus Greetings from the Human Genetics Laboratory! In order to meet your patients’ evolving needs, our laboratory team focused on test development in 2016, launching several new or updated indication-specific genetic tests. We hope that these testing updates will positively impact the quality of care that we provide for you and your patients, and we appreciate all suggestions about current or future needs. As the clinical genetic testing services have expanded into new areas of medicine over recent years, we also recognize that it can be difficult for patients and providers to navigate the logistics associated with the testing process. We want to ensure that your experience is seamless from the time of specimen collection to the receipt of results. From this need, our Client Services team was born! Our laboratory’s client services team includes experts in billing, coding, insurance and preauthorization, as well as individuals with the knowledge and expertise to help field questions and triage incoming samples. They are committed to ensuring a smooth and streamlined process for those using our laboratory’s testing services. To reach a member of our client services team, please call the laboratory at 402-559-5070 and select option 3 or email [email protected]. We appreciate the opportunity to partner with your team to deliver exceptional patient Newsletter care and we thank you for your continued trust in our services. 2016 volume 1 This Newsletter is produced by the Human Genetics Laboratory, part of the Munroe-Meyer Institute, at the University of Nebraska Medical Center. For additional printed copies, or other information, please contact: Nicole (Nikki) Hackendahl, B.S. Marketing Specialist 402-559-6935 | [email protected] UNMC Human Genetics Laboratory 985440 Nebraska Medical Center Omaha, NE 68498-5440 402.559.5070 [email protected] unmc.edu/geneticslab The Human Genetics Laboratory Team University of Nebraska Medical Center est. 1974 MISSION: To provide accurate and affordable genetic testing and interpretation for the patients we serve. Newsletter | 2 “Identification of the underlying genetic cause of a connective tissue disorder very often plays a critical role in a patient’s medical management.” Lois Starr, MD, FAAP, FACMG - clinical geneticist at UNMC’s Munroe-Meyer Institute for Genetics and Rehabilitaiton Testing Options for Connective Tissue Disorders In April, the Human Genetics Laboratory’s Connective Tissue Disorders | expanded 50 gene panel Connective Tissue Disorders Panel was ^ Indicates genes added to the previous panel expanded from 33 to 50 target genes. ABCC6 COL1A1 COL11A2 MYH11 SLC39A13 In order to comprehensively test all genes ACTA2 COL1A2 EFEMP2^ MYLK SMAD2^ that have a well-established role in a variety of connective tissue disorders, genes were ADAMTS2^ COL2A1 ELN NOTCH1^ SMAD3 included to provide testing for these disorders: ADAMTS10^ COL3A1 FBLN5^ PKD2^ SMAD4 • Marfan syndrome and Marfan-like related disorders ADAMTSL2^ COL5A1 FBN1 PLOD1 TGFB2 • Loeys-Dietz syndrome ALDH18A1^ COL5A2 FBN2 PRDM5^ TGFB3^ • Thoracic Aortic Aneurysmal Dissections (TAAD) ATP6V0A2^ COL9A1 FKBP14 PRKG1^ TGFBR1 • Ehlers-Danlos syndromes (EDS) ATP7A COL9A2 FLNA PYCR1^ TGFBR2 • Stickler syndrome CBS COL9A3 LTBP4^ SKI TNXB • Cutis Laxa CHST14 COL11A1 MED12^ SLC2A10 ZNF469^ The overlap in clinical presentation between numerous connective tissue disorders was Test Details, Ordering, and Logistics: We continue to offer both full gene the driving force behind the development of sequencing and high resolution deletion/duplication analysis for all gene panels related to connective tissue disorders. These are two independent assays that the expanded panel. However, for a subset of can be ordered simultaneously by marking the “Comprehensive testing” box patients, a smaller, more focused assay may be under the panel of choice; alternatively, either the sequencing or the deletion/ warranted. To meet this need, our laboratory duplication can be ordered independently by selecting the appropriate box under also launched three additional panels in the the panel of choice. family of connective tissue disorders. These are - This testing is performed on peripheral blood collected in an EDTA tube or on DNA indication-specific panels, and all of the genes extracted from buccal mucosa included in these panels are also available in - Please contact us to request specimen collection kits for your office. the 50 gene comprehensive Connective Tissue - You can expect results for all of the tests related to connective tissue disorders within Disorders Panel. 6 weeks of specimen receipt. TESTING OPTIONS FOR SPECIFIC INDICATIONS Cutis Laxa Ehlers-Danlos Syndrome (EDS) Stickler syndrome ALDH18A1 FBLN5 ADAMTS2 COL1A2 FKBP14 TNXB COL2A1 COL9A3 ATP6V0A2 LTBP4 ATP7A COL3A1 FLNA COL9A1 COL11A1 EFEMP2 PYCR1 CHST14 COL5A1 PLOD1 COL9A2 COL11A2 ELN COL1A1 COL5A2 SLC39A13 Newsletter | 3 Expanded Gene Panels for Rare Indications As part of the annual update to our gene panels, both the Craniosynostosis Panel and the Osteogenesis Imperfecta Panel were significantly expanded to ensure coverage of all pertinent genes. Comprehensive analysis of all genes included in each of these panels is available within 2-6 weeks of specimen receipt. Please visit our laboratory website or call to speak with one of our laboratory directors if you have any questions about how either of these panels can be of diagnostic utility for your patients. CRANIOSYNOSTOSIS Panel Expanded gene list | includes 26 genes ^ Indicates genes added to the previous panel ASXL1^ ERF^ FGFR3 IFT43^ MEGF8^ RAB23^ SKI^ TGFBR2^ WDR35^ CDC45^ FGFR1 FREM1^ IFT122^ MSX2^ RECQL4^ TCF12^ TWIST1 ZIC1^ EFNB1^ FGFR2 GLI3^ IL11RA^ POR^ RUNX2^ TGFBR1^ WDR19^ Indications for Testing • Craniosynostosis • Short stature or shortened long • Developmental delay, hearing loss, bones or vision concerns in a person • Facial features such as proptosis suspected to have craniosynostosis (bulging eyes), ptosis, widely spaced • Palatal abnormalities (cleft or high or skeletal dysplasia eyes, flattened midface, temporal palate) bossing • Bone fusions, especially carpal, • Syndactyly, clinodactyly, broad toes, tarsal, and radioulnar synostosis broad thumbs OSTEOGENESIS IMPERFECTA Panel Expanded gene list | includes 27 genes ^ Indicates genes added to the previous panel ALPL COL1A1 CRTAP FGF23^ LRP5^ PHEX^ PPIB SERPINH1 SP7 BMP1 COL1A2 DMP1^ FKBP10 P3H1 PLOD2 SEC24D^ SLC34A3^ TMEM38B CASR^ CREB3L1^ ENPP1^ IFITM5 P4HB^ PLS3^ SERPINF1 SPARC^ WNT1 Indications for Testing • Family history of OI • Radiographic
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