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Pancreatitis Genetic Testing Chronic pancreatitis (CP) is characterized by recurring inflammatory attacks that gradually cause irreversible and life-threatening damage to the pancreas and surrounding tissue.1,2 Alcoholism and other environmental factors are the primary cause of CP, but in 20% of cases no environmental cause is found. Of these, genetics may play a major role. 3 Familial pancreatitis is defined as pancreatitis from any cause, which occurs in a family more frequently than would be expected by chance alone; its cause may be non-genetic or genetic.1 Hereditary pancreatitis is defined as either two or more individuals with pancreatitis in two or more generations of a family, or that associated with a germline disease-causing gene mutation. Hereditary pancreatitis may begin in childhood. Patients with CP are at increased risk of diabetes and pancreatic cancer.1, 2 Understanding one’s risk of developing CP can help people adjust their lifestyles to dramatically reduce their risk of CP and associated health problems. Hereditary pancreatitis is most commonly caused by mutations in four genes (listed below). It can also occur as part of other inherited conditions, like Shwachman-Diamond syndrome. PRSS1 is the most common gene associated with hereditary pancreatitis. PRSS1 mutations are found in at least 60% of families with hereditary CP.1 Mutations in SPINK1, CFTR, and CTRC are also associated with susceptibility to pancreatitis though penetrance and expressivity are highly variable. 5 Monoallelic mutations in these genes may result in a pancreatitis phenotype on their own or may contribute to and modify the phenotype when inherited in combination with pathogenic mutations in other genes. 3 Biallelic mutations within the same gene may result in a more severe pancreatitis phenotype. We offer comprehensive testing for CP that features next generation sequencing (NGS). Pancreatitis Panel: includes NGS of PRSS1, SPINK1, CTRC, CFTR Individual sequencing of PRSS1, SPINK1, CTRC, and CFTR, is available. Specific Site Analysis of mutations identified previously in a family member is also available. OPTIMIZED TEST DESIGN Our tests are created to maximize yield, minimize turnaround time and control costs through step-wise testing when appropriate. INSURANCE We are contracted with the majority of health plans and Medicare. All outof-network patients are treated as innetwork to minimize out-of-pocket costs. Medicaid coverage varies by state and preverification is recommended. PATIENT PROTECTION PLAN Ambry’s billing policy is to preverify insurance coverage (with or without patient sample) for genetic testing. We will contact the patient after their sample is received, if their out-of-pocket cost is estimated to exceed $100. We are committed to working with you and your patients to make the genetic testing process as simple and cost-effective as possible, and our Billing Department is available to answer any questions your patient may have. Our Billing Department can be reached by phone at +1-949-900-5795 or [email protected]. CLINICAL SUPPORT Board-certified physicians and genetic counselors are available to assist with test selection and result interpretation. CUSTOMER SERVICE Responsive, knowledgeable representatives are always ready to answer your questions. We also offer easy-to-read result reports and complimentary sample submission kits to make the testing process smoother. ABOUT AMBRY GENETICS Ambry is a genetics-based healthcare company that is dedicated to open scientific exchange so we can work together to understand and treat all human disease faster. Pancreatitis Genetic Testing benefits of testing specimen requirements Genetic testing for pancreatitis can facilitate: Blood: Collect 3-5cc from adult or 2cc minimum from child into EDTA purple-top tube (preferred) or ACD yellow-top tube. Store at room temperature or refrigerate. Ship at room temperature. • Providing targeted therapy Gene mutations may cause different symptoms, and specific treatments are available based on genetic test results. Results can also help guide recommendations for surveillance and reducing exposure to risk factors (like smoking and alcohol intake). • Helping your patient understand his/her condition and increase compliance Knowledge of the diagnosis helps a patient understand his or her symptoms, reinforces understanding of its chronic nature, and emphasizes the importance of maintaining dietary and lifestyle modifications. • Helping communicate inheritance risk Sharing test results with family members can help reduce their risk of developing chronic pancreatitis. Guidelines suggest testing for children may also be warranted, given the possible early onset of symptoms.4 • Avoiding repeated diagnostic testing Saliva: Fill 1 tube (2 tubes for pediatric patients) with saliva up to black line (1cc of saliva) in Oragene Self Collection container. Close tube; 1cc of buffer will mix with saliva for a total volume of 2cc. Store at room temperature in sterile bag. Shipment: Room temperature for two-day delivery. DNA: 20 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 200 μl at ~100 ng/μl conc. Please provide DNA OD 260-280 ratio (preferred 1.7-1.9) and send agarose picture with high mw genomic DNA, if available. Store at -20°C. Ship frozen on dry ice (preferred) or ice. Blood Spot: Minimum of one complete spot ~0.5 inches in diameter on S&S 903 collection paper or similar. Store in sterile bag at room temperature. Ship at room temp for 2-day delivery. Prenatal: Prenatal testing is available. Please call an Ambry genetic counselor to discuss your case. NOTE: Complete specimen requirements can be found at ambrygen.com/specimen-requirements. our pancreatitis genetic testing options TEST CODES TECHNIQUE 8022 Pancreatitis Panel: NGS of PRSS1, SPINK1, CTRC, CFTR 1100 PRSS1 gene sequence 1120 SPINK1 gene sequence 1660 CTRC gene sequence 1000 CFTR gene sequence 1440 SBDS gene sequence (Shwachman-Diamond syndrome) Call or visit ambrygen.com Specific Site Analysis for a familial mutation Please visit ambrygen.com for more information, including turnaround times. Full gene sequencing of CFTR, PRSS1, SPINK1, CTRC and gross deletion/duplication analyses of CFTR may be ordered individually, or in any combination. Our Pancreatitis Panel can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity). references 1. LaRush, J et al. Pancreatitis Overview. GeneReviews. 2014. Pagon RA, Adam MP, Ardiner HH et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2014. 2. Whitcomb DC. Genetics of pancreatitis: an update for clinicians and genetic counselors. Curr Gastroenterol Rep. 2012 Apr;14(2):112-7. 3. Mason E, et al. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: Data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. PLoS One. 2013 Aug 8;8(8):e73522. 4. Ellis I, et al. Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues. Pancreatology. 2001;1(5):405-15. 5. Rosendahl J, et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? Gut. 2013 Apr;62(4):582-92. PTINFOSHT 50339.1514_v10 15 Argonaut, Aliso Viejo, CA 92656 USA Toll Free +1 866 262 7943 Fax +1 949 900 5501 ambrygen.com