Posted by cj on July 20, 2006 at 16:10:14
http://www.ambrygen.com/reports/Pancreatitis%20Sales%20Aid%205-06.pdf
The Ambry Test : PancreatitisPancreatitis is a serious problem with asignificant genetic component.Pancreatitis accounts for 87,000 hospitalizationsper year in the US.1 Chronic pancreatitis patientsface a 26-fold increased risk of pancreatic cancer,and for those with hereditary pancreatitis, the riskis 50-fold with approximately 40% developingpancreatic cancer by age 70.2Normal exocrine pancreatic function depends on adelicate balance of enzyme activation andinhibition which can be affected by multipleenvironmental and genetic factors. Hereditarypancreatitis has been linked to mutations in thePRSS1 gene. Study of idiopathic chronic andrecurrent acute pancreatitis demonstrates thatmutations in three genes – PRSS1, SPINK1, andCFTR – predispose to pancreatitis.3Due to the cumulative contribution of three genesin both dominant and recessive patterns, a patientmay have genetically-determined pancreatitis evenif family history is negative.Ambry Genetics offers the world’s onlycomprehensive genetic test for pancreatitis.To help determine etiology and suggestappropriate treatments, Ambry Genetics offersanalysis of all coding regions of the CFTR, PRSS1,and SPINK1 genes in The Ambry Test: PancreatitisAMPLIFIED™. This test also analyzes the CFTRgene for gross deletions and duplications, whenindicated, providing a detection rate ofapproximately 99% for each gene. The panel isalso available without CFTR deletion/duplicationanalysis (The Ambry Test: Pancreatitis, CFdetection rate 97-98%), and each test is availableseparately.100 Columbia #200 | Aliso Viejo, CA 92656 | 949 900 5500fax 949 900 5501 | toll free 866 262 7943 |
www.ambrygen.com|
Pancreatitis1 in 4 patients tests positive for at least onesignificant genetic mutation.Mutations in three genes predispose to chronicand recurrent acute pancreatitis:• CFTR – cystic fibrosis transmembraneconductance regulator• PRSS1 – cationic trypsinogen• SPINK1 – serine protease inbitor, Kazal type 1Genetic testing for pancreatitis can help you:• Avoid repeated diagnostic testing• Provide targeted therapy• Address increased cancer risk in geneticallydeterminedpancreatitis• Help your patient understand his condition andincrease compliance• Communicate inheritance risks tofamily membersNo other test can identifymore mutations thanThe Ambry Test:Pancreatitis AMPLIFIEDGet started with Ambry Genetics today.Sample submission kits are available atno charge. Please call 866-262-7943 or visitour website to obtain more information andall necessary forms.™100 Columbia #200 | Aliso Viejo, CA 92656 | 949 900 5500fax 949 900 5501 | toll free 866 262 7943 | www.ambrygen.com|
Pancreatitis• In the entire patient set, 49.1% (116/236) carriedat least one mutation.• 11.0% (26/236) had a form of CF confirmed by2 CF mutations. An additional 22.0% (52/236)had one CF mutation.• 8.9% (21/236) had mutations in more than one gene.• Only 4.2% (10/236) patients had PRSS1mutations only.• Approximately 1/4 patients (23.7%, 56/256) havemutations with a clear causative component(defined as presence of 2 CF mutations and/orknown deleterious PRSS1 or SPINK1 mutations).83891, 83894, 83898,83903, 83904, 83909,839123-5 WeeksFull gene mutation scanning is performed by modified TemporalTemperature Gradient Electrophoresis (mTTGE). All sequencevariations detected by mTTGE are identified by double-strandedautomated sequencing. If indicated, CFTR gross deletion /duplication testing is performed by MLPA (MRC Holland).Blood: 5cc peripheral blood in purple-top EDTA (preferred) oryellow top ACD. Store at 2-8° C up to 96 hours prior toshipping. Do not freeze. Ship at room temperature.CPT CodesTurn-Around-TimeMethodSpecimenRequirements1 Yakshe P. Pancreatitis, chronic. emedicine [online resource]. Available at: http://www.emedicine.com/MED/topic1721.htm. Last update July 2005.2 Erickson RA. Pancreatic cancer. emedicine [online resource]. Available at: http://www.emedicine.com/MED/topic1712.htm. Last update Dec 2005.3 Etemad B, Whitcomb DC. Gastroenterology. 2001;120:682-707.4 Whitcomb DC.US Gastro Review. 2006;56-58, and personal communication.© 2006 Ambry Genetics. All rights reserved. P0506-09-003-MKG-00.PANCREATITIS PANEL PANCREATITIS PANEL AMPLIFIED83891, 83894, 83898, 83900,83901, 83903, 83904, 83909,839124-6 Weeks1 in 4 patients has at least onesignificant mutation.In a series of patients with chronic or recurrentacute pancreatitis, The Ambry Test: Pancreatitisdetected at least one mutation in 49.1% (116/236).Though patients known to have cystic fibrosis (CF)were excluded from this series, 11.0% (26/236) werefound to have a form of CF confirmed with at leasttwo CFTR mutations. Nearly as many patients(8.9%, 21/236) had mutations in more thanone gene.Using a stricter definition of clinical significance aspresence of known deleterious mutations in PRSS1or SPINK1, and/or two CF mutations, approximatelyone in four patients (23.7%, 56/236) has a causativegenetic component to their pancreatitis.Genetic testing results can help youmanage your patient.As mutations in different genes affect differentsteps of trypsin activation and inhibition, genetictesting can suggest treatments targeted to apatient’s particular defect. For example, PRSS1mutations may lead to premature trypsinogenactivation through altered sensitivity to calcium.Preventive measures could include various steps tominimize stimulation of the acinar cells and assistcalcium regulation.4 CFTR mutations impairpancreatic duct flushing, so treatments could focuson stimulating the pancreas and maximizing flowthrough the duct.4Identifying patients with mutations allowsappropriately increased cancer surveillance.Knowledge of contributory mutations explains thedisease to the patient, reinforces understanding ofits chronic nature, and affirms the importance ofcompliance with dietary and lifestyle modifications.Further, family members may be tested andcounseled to minimize their risk of developingchronic pancreatitis.Mutation distribution in 236 patients testedwith The Ambry Test: Pancreatitits
The Ambry Test : PancreatitisPancreatitis is a serious problem with asignificant genetic component.Pancreatitis accounts for 87,000 hospitalizationsper year in the US.1 Chronic pancreatitis patientsface a 26-fold increased risk of pancreatic cancer,and for those with hereditary pancreatitis, the riskis 50-fold with approximately 40% developingpancreatic cancer by age 70.2Normal exocrine pancreatic function depends on adelicate balance of enzyme activation andinhibition which can be affected by multipleenvironmental and genetic factors. Hereditarypancreatitis has been linked to mutations in thePRSS1 gene. Study of idiopathic chronic andrecurrent acute pancreatitis demonstrates thatmutations in three genes – PRSS1, SPINK1, andCFTR – predispose to pancreatitis.3Due to the cumulative contribution of three genesin both dominant and recessive patterns, a patientmay have genetically-determined pancreatitis evenif family history is negative.Ambry Genetics offers the world’s onlycomprehensive genetic test for pancreatitis.To help determine etiology and suggestappropriate treatments, Ambry Genetics offersanalysis of all coding regions of the CFTR, PRSS1,and SPINK1 genes in The Ambry Test: PancreatitisAMPLIFIED™. This test also analyzes the CFTRgene for gross deletions and duplications, whenindicated, providing a detection rate ofapproximately 99% for each gene. The panel isalso available without CFTR deletion/duplicationanalysis (The Ambry Test: Pancreatitis, CFdetection rate 97-98%), and each test is availableseparately.100 Columbia #200 | Aliso Viejo, CA 92656 | 949 900 5500fax 949 900 5501 | toll free 866 262 7943 | www.ambrygen.com| Pancreatitis
1 in 4 patients tests positive for at least onesignificant genetic mutation.Mutations in three genes predispose to chronicand recurrent acute pancreatitis:• CFTR – cystic fibrosis transmembraneconductance regulator• PRSS1 – cationic trypsinogen• SPINK1 – serine protease inbitor, Kazal type 1Genetic testing for pancreatitis can help you:• Avoid repeated diagnostic testing• Provide targeted therapy• Address increased cancer risk in geneticallydeterminedpancreatitis• Help your patient understand his condition andincrease compliance• Communicate inheritance risks tofamily membersNo other test can identifymore mutations thanThe Ambry Test:Pancreatitis AMPLIFIEDGet started with Ambry Genetics today.Sample submission kits are available atno charge. Please call 866-262-7943 or visitour website to obtain more information andall necessary forms.™100 Columbia #200 | Aliso Viejo, CA 92656 | 949 900 5500fax 949 900 5501 | toll free 866 262 7943 | www.ambrygen.com| Pancreatitis•
In the entire patient set, 49.1% (116/236) carriedat least one mutation.• 11.0% (26/236) had a form of CF confirmed by2 CF mutations. An additional 22.0% (52/236)had one CF mutation.• 8.9% (21/236) had mutations in more than one gene.• Only 4.2% (10/236) patients had PRSS1mutations only.• Approximately 1/4 patients (23.7%, 56/256) havemutations with a clear causative component(defined as presence of 2 CF mutations and/orknown deleterious PRSS1 or SPINK1 mutations).83891, 83894, 83898,83903, 83904, 83909,839123-5 WeeksFull gene mutation scanning is performed by modified TemporalTemperature Gradient Electrophoresis (mTTGE). All sequencevariations detected by mTTGE are identified by double-strandedautomated sequencing. If indicated, CFTR gross deletion /duplication testing is performed by MLPA (MRC Holland).Blood: 5cc peripheral blood in purple-top EDTA (preferred) oryellow top ACD. Store at 2-8° C up to 96 hours prior toshipping. Do not freeze. Ship at room temperature.CPT CodesTurn-Around-TimeMethodSpecimenRequirements1 Yakshe P. Pancreatitis, chronic. emedicine [online resource]. Available at: http://www.emedicine.com/MED/topic1721.htm. Last update July 2005.2 Erickson RA. Pancreatic cancer. emedicine [online resource]. Available at: http://www.emedicine.com/MED/topic1712.htm. Last update Dec 2005.3 Etemad B, Whitcomb DC. Gastroenterology. 2001;120:682-707.4 Whitcomb DC.US Gastro Review. 2006;56-58, and personal communication.© 2006 Ambry Genetics. All rights reserved. P0506-09-003-MKG-00.PANCREATITIS PANEL PANCREATITIS PANEL AMPLIFIED83891, 83894, 83898, 83900,83901, 83903, 83904, 83909,839124-6 Weeks
1 in 4 patients has at least onesignificant mutation.In a series of patients with chronic or recurrentacute pancreatitis, The Ambry Test: Pancreatitisdetected at least one mutation in 49.1% (116/236).Though patients known to have cystic fibrosis (CF)were excluded from this series, 11.0% (26/236) werefound to have a form of CF confirmed with at leasttwo CFTR mutations. Nearly as many patients(8.9%, 21/236) had mutations in more thanone gene.Using a stricter definition of clinical significance aspresence of known deleterious mutations in PRSS1or SPINK1, and/or two CF mutations, approximatelyone in four patients (23.7%, 56/236) has a causativegenetic component to their pancreatitis.Genetic testing results can help youmanage your patient.As mutations in different genes affect differentsteps of trypsin activation and inhibition, genetictesting can suggest treatments targeted to apatient’s particular defect. For example, PRSS1mutations may lead to premature trypsinogenactivation through altered sensitivity to calcium.Preventive measures could include various steps tominimize stimulation of the acinar cells and assistcalcium regulation.4 CFTR mutations impairpancreatic duct flushing, so treatments could focuson stimulating the pancreas and maximizing flowthrough the duct.4Identifying patients with mutations allowsappropriately increased cancer surveillance.Knowledge of contributory mutations explains thedisease to the patient, reinforces understanding ofits chronic nature, and affirms the importance ofcompliance with dietary and lifestyle modifications.Further, family members may be tested andcounseled to minimize their risk of developingchronic pancreatitis.Mutation distribution in 236 patients testedwith The Ambry Test: Pancreatitits
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