Providers > MAIN Portfolio Jan2022

Precision Medicine Solutions

For the diagnosis, monitoring & tailored treatment
of complex pancreatic diseases

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Gene Panels

How It Works

FAQ

Going Beyond Genetics to Guide Clinical Decisions

Integrating genetic, environmental, clinical data and curated guidelines from the world’s top experts to guide earlier diagnoses and patient-specific care plans.

Currently, many complex diseases are detected too late in their progression based on symptoms that can be misleading. Ariel goes beyond genetics to provide valuable information to clarify risk and guide a personalized approach to the early detection of complex diseases such as pancreatitis and pancreatic cancer. Our reports are tailored to each patient, integrating patient reported outcomes, environmental and medical history into the interpretation of the genetic data.

 

 

Refined Genetic Risk Assessment

Our AI powered analysis combines genetics, environmental and patient-specific data with clinical guidance supported by the most current scientific evidence to provide a comprehensive and actionable risk assessment to inform screening for early detection, risk-reducing strategies, and treatment.

Ariel provides a refined genetic risk assessment with internally developed disease-specific risk classification for patients with complex pancreatic diseases. Ariel provides information on low-to-moderate effect variants that are important for disease in combination, but not reported by other laboratories due to application of agnostic variant reporting approaches rather than a disease-specific approach.  Ariel is committed to full transparency in variant reporting and provides you and your patients with a summary of the latest research on specific variants and their association with disease. Ariel provides a detailed, patient specific genetic report that is actionable and easy-to-interpret.

 

 

Telehealth Compatible

Ariel’s in-depth gene panels can be ordered remotely for patients and testing can be done in the privacy of their home using a saliva test.  Ariel’s team works to ensure that patients know up-front what the potential out-of-pocket cost will be before testing is completed.

 

 

Genetic Counseling Available

Ariel offers genetic counseling services to offer additional support to you and your patient.

How Ariel Benefits Providers

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Unravel Complex Conditions

Our platform integrates a patient’s symptoms and genetics with complex medical information.

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Available Genetic Counseling

Pre- and/or post-test genetic counseling if you need extra help with genetic testing.

Ariel expertise
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Comprehensive Genetic Testing

Analyzes multiple risk factors that are disease causing rather than just assessing single gene risk factors.

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Secure Online Test Management

Order and review test results, add medical team and request patient consent using our portal.

In addition to traditional Mendelian variants, Ariel reports disease modifying and complex genetic variants.

Advanced Genetics

In addition to traditional Mendelian variants, Ariel reports disease modifying and complex genetic variants.

Patient Specific

Our reports are tailored to each patient, integrating patient reported outcomes, environmental and medical history into the interpretation of the genetic data.

Expertise

Expertise

Our platform provides you with clinical considerations according to guidelines and continuously updates you and your patients if variants are reclassified.

Quality

Our platform uses some of the highest quality next-generation sequencing on the market and our laboratory is CLIA-certified. 

Targeted Gene Panels
For Pancreatitis and Pancreatic Cancer

Ariel offers two stand-alone next-generation sequencing panels to analyze your patient’s genetic risk for pancreatitis or pancreatic cancer.  Additionally, Ariel offers two add-on next-generation sequencing panels for abnormal lipid metabolism and pharmacogenomics.  Add-on panels provide additional insight to optimize personalized management and treatment plans. 

Stand Alone Panels

ArielDx® Pancreatitis

A next-generation sequencing panel of 13 genes related to susceptibility to pancreatitis and related complications. ArielDx Pancreatitis tests for predisposition to both Mendelian (monogenic) and complex (multifactorial) forms of disease. A minority of pancreatitis patients have a monogenic cause of disease. Therefore, testing for predisposing risk variants in addition to monogenic disease variants assures a complete picture of known genetic predisposition.

CASR, CEL, CFTR, CLDN2, CPA1, CTRC, GGT1, PRSS1-2, PRSS3, SBDS, SLC26A9, SPINK1 and UBR1.

Genetic testing for pancreatitis is recommended for individuals with pancreatitis that meet one or more of the following criteria:

  • An unexplained episode of acute pancreatitis in childhood
  • Recurrent acute or chronic pancreatitis without a known cause, particularly with early-onset
  • A family history of pancreatitis of unknown cause
  • A family history of pancreatitis with an established genetic cause
  • Additional symptoms consistent with a genetic disorder that includes pancreatitis as a symptom, such as cystic fibrosis or a CFTR-related disorder
  • Additionally, individuals that meet any of the following criteria may also benefit from genetic testing:
  • One or more attacks (or suspected attacks) of acute pancreatitis
  • Abdominal pain after eating, chronic diarrhea, abnormal findings on a CT or MRI scan, or an abnormal laboratory test related to the pancreas
  1. Zhou D, Bai R, Wang L. The Cystic Fibrosis Transmembrane Conductance Regulator 470 Met Allele Is Associated with an Increased Risk of Chronic Pancreatitis in Both Asian and Caucasian Populations: A Meta-Analysis. Genet Test Mol Biomarkers. 2020 Jan;24(1):24-32. doi: 10.1089/gtmb.2019.0199. PMID: 31940241.
  2. Farrell, Philip M., et al. “Introduction to ‘Cystic Fibrosis Foundation Consensus Guidelines for Diagnosis of Cystic Fibrosis.’” The Journal of Pediatrics, vol. 181, 2017, doi:10.1016/j.jpeds.2016.09.062.
  3. Whitcomb DC, Yadav D, Adam S, Hawes RH, Brand RE, Anderson MA, Money ME, Banks PA, Bishop MD, Baillie J, Sherman S, DiSario J, Burton FR, Gardner TB, Amann ST, Gelrud A, Lo SK, DeMeo MT, Steinberg WM, Kochman ML, Etemad B, Forsmark CE, Elinoff B, Greer JB, O’Connell M, Lamb J, Barmada MM; North American Pancreatic Study Group. Multicenter approach to recurrent acute and chronic pancreatitis in the United States: the North American Pancreatitis Study 2 (NAPS2). Pancreatology. 2008;8(4-5):520-31. doi: 10.1159/000152001. Epub 2008 Sep 3. PMID: 18765957; PMCID: PMC2790781.
  4. Romagnuolo J, Talluri J, Kennard E, Sandhu BS, Sherman S, Cote GA, Al-Kaade S, Gardner TB, Gelrud A, Lewis MD, Forsmark CE, Guda NM, Conwell DL, Banks PA, Muniraj T, Wisniewski SR, Tian Y, Wilcox CM, Anderson MA, Brand RE, Slivka A, Whitcomb DC, Yadav D. Clinical Profile, Etiology, and Treatment of Chronic Pancreatitis in North American Women: Analysis of a Large Multicenter Cohort. Pancreas. 2016 Aug;45(7):934-40. doi: 10.1097/MPA.0000000000000616. PMID: 26967451; PMCID: PMC4940220.
  5. Miller AC, Comellas AP, Hornick DB, Stoltz DA, Cavanaugh JE, Gerke AK, Welsh MJ, Zabner J, Polgreen PM. Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions. Proc Natl Acad Sci U S A. 2020 Jan 21;117(3):1621-1627. doi: 10.1073/pnas.1914912117. Epub 2019 Dec 27. PMID: 31882447; PMCID: PMC6983448.
  6. LaRusch, Jessica et al. “The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.” Clinical and translational gastroenterology vol. 6,1 e68. 8 Jan. 2015, doi:10.1038/ctg.2014.13.
  7. Tremblay, Karine et al. “Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency.” Frontiers in genetics vol. 5 90. 22 Apr. 2014, doi:10.3389/fgene.2014.00090.
  8. Muddana V, Lamb J, Greer JB, Elinoff B, Hawes RH, Cotton PB, Anderson MA, Brand RE, Slivka A, Whitcomb DC. Association between calcium sensing receptor gene polymorphisms and chronic pancreatitis in a US population: role of serine protease inhibitor Kazal 1type and alcohol. World J Gastroenterol. 2008 Jul 28;14(28):4486-91. doi: 10.3748/wjg.14.4486. PMID: 18680227; PMCID: PMC2731274.
  9. Kimura S, Okabayashi Y, Inushima K, Yutsudo Y, Kasuga M. Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis. Dig Dis Sci. 2000 Oct;45(10):2007-12. doi: 10.1023/a:1005500210281. PMID: 11117575.
  10. Radosavljevic I, Stojanovic B, Spasic M, Jankovic S, Djordjevic N. CFTR IVS8 Poly-T Variation Affects Severity of Acute Pancreatitis in Women. J Gastrointest Surg. 2019 May;23(5):975-981. doi: 10.1007/s11605-018-3913-8. Epub 2018 Aug 21. PMID: 30132293.
  11. Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Erratum in: Hum Mutat. 2012 Feb;33(2):456. Lühr, Matthias [corrected to Löhr, Matthias]. PMID: 21520337.
  12. Yu-Ting Chang, Ming-Chu Chang, Ta-Chen Su, Po-Chin Liang, Yi-Ning Su, Chun-Hung Kuo, Shu-Chen Wei, Jau-Min Wong, Association of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation/Variant/Haplotype and Tumor Necrosis Factor (TNF) Promoter Polymorphism in Hyperlipidemic Pancreatitis, Clinical Chemistry, Volume 54, Issue 1, 1 January 2008, Pages 131–138, https://doi.org/10.1373/clinchem.2007.093492.
  13. Du, Qiang et al. “The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.” BioMed research international vol. 2014 (2014): 689185. doi:10.1155/2014/689185
  14. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest. 1998 Jan 15;101(2):487-96. doi: 10.1172/JCI639. PMID: 9435322; PMCID: PMC508589.
  15. Phillips AE, Ooka K, Pothoulakis I, Paragomi P, Komara N, Lahooti A, Harb D, Mays M, Koutroumpakis F, Stello K, Greer PJ, Whitcomb DC, Papachristou GI. Assessment of Weight Loss and Gastrointestinal Symptoms Suggestive of Exocrine Pancreatic Dysfunction After Acute Pancreatitis. Clin Transl Gastroenterol. 2020 Dec 15;11(12):e00283. doi: 10.14309/ctg.0000000000000283. PMID: 33464001; PMCID: PMC7743841.

ArielDx® Pancreatic Cancer

A 14-gene targeted sequencing panel for established moderate to high penetrance genes associated with risk of pancreatic ductal adenocarcinoma (PDAC). *Deletion/duplication studies only.

Genes targeted have the most clinical evidence for genetic risk for pancreatic cancer. These genes are associated with established risks for cancer and management guidelines. Larger gene panels often contain low-evidence or low-penetrance genes for which there may be limited evidence for association with pancreatic cancer, undefined risk of pancreatic and other cancers, lack of clinically actionable findings and/or no medical management guidelines. The findings in these additional genes may be uninformative. Moreover, there is a higher likelihood of identifying a variant of uncertain significance which increases the risk of misinterpretation and patient mismanagement.

APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, STK11, TP53

For pancreatic cancer genetic testing (and testing for other hereditary cancer syndromes), NCCN criteria is generally followed. Personal history of cancer and/or family history of cancer are considered when determining eligibility and likelihood of reimbursement.

National Comprehensive Cancer Network (NCCN) criteria includes:

  • Individuals with a personal history of exocrine pancreatic cancer
  • First-degree blood relatives of an individual with exocrine pancreatic cancer if the affected individual is unavailable

Additional criteria for individuals or close family members:

  • Early-onset cancer
  • Multiple cancer diagnoses
  • Multiple closely related individuals with cancer and/or early-onset cancer on the same side of the family
  • Specific uncommon cancers, such as male breast cancer
  • A previously identified pathogenic (harmful) genetic variant in a family member
  • Ashkenazi Jewish ancestry and breast or prostate cancer at any age
  1.  Hocevar, Barbara A et al. “Contribution of environment and genetics to pancreatic cancer susceptibility.” PloS one vol. 9,3 e90052. 20 Mar. 2014, doi:10.1371/journal.pone.0090052.
  2. Giardiello FM, Offerhaus GJ, Lee DH, Krush AJ, Tersmette AC, Booker SV, Kelley NC, Hamilton SR. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut. 1993 Oct;34(10):1394-6. doi: 10.1136/gut.34.10.1394. PMID: 8244108; PMCID: PMC1374548.
  3. Friedl W, Aretz S. Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. Hered Cancer Clin Pract. 2005 Sep 15;3(3):95-114. doi: 10.1186/1897-4287-3-3-95. PMID: 20223039; PMCID: PMC2837297.
  4. Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, Pierotti M, Spinelli P, Radice P; Hereditary Colorectal Tumor Registry. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol. 2003 May 1;21(9):1698-707. doi: 10.1200/JCO.2003.09.118. PMID: 12721244.
  5. van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20. PMID: 26662178.
  6. Hu C, Hart SN, Polley EC, et al. Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA. 2018;319(23):2401–2409. doi:10.1001/jama.2018.6228
  7. Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet. 1999 Jun;64(6):1617-31. doi: 10.1086/302418. PMID: 10330348; PMCID: PMC1377904.
  8. Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A. Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. Int J Cancer. 2017 Jan 1;140(1):95-102. doi: 10.1002/ijc.30428. Epub 2016 Sep 23. PMID: 27616075.
  9. Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C. Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer. J Glob Oncol. 2019 May;5:1-14. doi: 10.1200/JGO.18.00163. PMID: 31125277; PMCID: PMC6550094.
  10. National Center for Biotechnology Information. ClinVar; [VCV000181975.16], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000181975.16 (accessed July 21, 2021).
  11. Grandval P, Baert-Desurmont S, Bonnet F, Bronner M, Buisine MP, Colas C, Noguchi T, North MO, Rey JM, Tinat J, Toulas C, Olschwang S. Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion. Clin Genet. 2012 Jul;82(1):97-9. doi: 10.1111/j.1399-0004.2011.01826.x. Epub 2012 Jan 16. PMID: 22243433.
  12. Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8. PMID: 21145788; PMCID: PMC3670774.
  13. Tutlewska, K., Lubinski, J. & Kurzawski, G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review. Hered Cancer Clin Pract 11, 9 (2013). https://doi.org/10.1186/1897-4287-11-9
  14. Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat. 2009 Feb;30(2):197-203. doi: 10.1002/humu.20942. PMID: 19177550.
  15. Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21. PMID: 19098912.
  16. National Center for Biotechnology Information. ClinVar; [VCV000012775.2], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000012775.2 (accessed July 21, 2021).
  17. Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007 Mar 15;446(7133):316-9. doi: 10.1038/nature05609. Epub 2007 Feb 7. PMID: 17287723.
  18. Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion
    Elena M. Stoffel, Shannon E. McKernin, Randall Brand, Marcia Canto, Michael Goggins, Cassadie Moravek, Arun Nagarajan, Gloria M. Petersen, Diane M. Simeone, Matthew Yurgelun, and Alok A. Khorana

    Journal of Clinical Oncology 2019 37:2, 153-164.

  19. Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, Neoptolemos JP, Greenhalf W, Bartsch DK. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010 Nov;78(5):490-4. doi: 10.1111/j.1399-0004.2010.01425.x. PMID: 20412113.
  20. Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [Updated 2016 Dec 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1247/
  21. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF; EMBRACE. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29. PMID: 23628597.
  22. Antoniou AC, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet. 2005 Jul;42(7):602-3. doi: 10.1136/jmg.2004.024133. PMID: 15994883; PMCID: PMC1736090.
  23. Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet. 1997 Mar;60(3):505-14. PMID: 9042909; PMCID: PMC1712523.
  24. Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H. High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8. PMID: 23658460; PMCID: PMC3959126.
  25. Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J. A high-throughput functional complementation assay for classification of BRCA1 missense variants. Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18. PMID: 23867111.
  26. National Center for Biotechnology Information. ClinVar; [VCV000017662.31], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000017662.31 (accessed July 21, 2021).
  27. Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [Updated 2016 Dec 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1247/
  28. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF; EMBRACE. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29. PMID: 23628597.
  29. Arason A, Jonasdottir A, Barkardottir RB, Bergthorsson JT, Teare MD, Easton DF, Egilsson V. A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland. J Med Genet. 1998 Jun;35(6):446-9. doi: 10.1136/jmg.35.6.446. PMID: 9643283; PMCID: PMC1051336.
  30. Mikaelsdottir EK, Valgeirsdottir S, Eyfjord JE, Rafnar T. The Icelandic founder mutation BRCA2 999del5: analysis of expression. Breast Cancer Res. 2004;6(4):R284-90. doi: 10.1186/bcr785. Epub 2004 Apr 7. PMID: 15217494; PMCID: PMC468616.
  31. National Center for Biotechnology Information. ClinVar; [VCV000009326.12], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000009326.12 (accessed July 21, 2021).
  32. Berwick M, Orlow I, Hummer AJ, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Anton-Culver H, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Kanetsky PA, Busam K, From L, Mujumdar U, Wilcox H, Begg CB; GEM Study Group. The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. Cancer Epidemiol Biomarkers Prev. 2006 Aug;15(8):1520-5. doi: 10.1158/1055-9965.EPI-06-0270. PMID: 16896043.
  33. Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA; Melanoma Genetics Consortium. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. doi: 10.1093/jnci/94.12.894. PMID: 12072543.
  34. Ghiorzo, Paola, et al. “Characterization of Ligurian Melanoma Families and Risk of Occurrence of Other Neoplasia.” International Journal of Cancer, vol. 83, no. 4, 1999, pp. 441–448., doi:10.1002/(sici)1097-0215(19991112)83:4<441::aid-ijc2>3.0.co;2-r.
  35. Vasen HF, Gruis NA, Frants RR, van Der Velden PA, Hille ET, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000 Sep 15;87(6):809-11. PMID: 10956390.
  36. Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Måsbäck A, Westerdahl J, Olsson H, Ingvar C. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst. 2000 Aug 2;92(15):1260-6. doi: 10.1093/jnci/92.15.1260. PMID: 10922411.
  37. Ranade K, Hussussian CJ, Sikorski RS, Varmus HE, Goldstein AM, Tucker MA, Serrano M, Hannon GJ, Beach D, Dracopoli NC. Mutations associated with familial melanoma impair p16INK4 function. Nat Genet. 1995 May;10(1):114-6. doi: 10.1038/ng0595-114. PMID: 7647780.
  38. Miller PJ, Duraisamy S, Newell JA, Chan PA, Tie MM, Rogers AE, Ankuda CK, von Walstrom GM, Bond JP, Greenblatt MS. Classifying variants of CDKN2A using computational and laboratory studies. Hum Mutat. 2011 Aug;32(8):900-11. doi: 10.1002/humu.21504. PMID: 21462282.
  39. Rossi, Mariarita et al. “Familial Melanoma: Diagnostic and Management Implications.” Dermatology practical & conceptual vol. 9,1 10-16. 31 Jan. 2019, doi:10.5826/dpc.0901a03
  40. Mantelli M, Barile M, Ciotti P, Ghiorzo P, Lantieri F, Pastorino L, Catricalà C, Torre GD, Folco U, Grammatico P, Padovani L, Pasini B, Rovini D, Queirolo P, Rainero ML, Santi PL, Sertoli RM, Goldstein AM, Bianchi-Scarrà G; Società Italiana Dermatologia; Gruppo Italiano Studi Epidemiologici in Dermatologia. High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. Am J Med Genet. 2002 Jan 22;107(3):214-21. PMID: 11807902.
  41. National Center for Biotechnology Information. ClinVar; [VCV000009412.18], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000009412.18 (accessed July 21, 2021).
  42. Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol. 2014 Aug;109(8):1159-79. doi: 10.1038/ajg.2014.186. Epub 2014 Jul 22. PMID: 25070057.
  43. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994 Mar 18;263(5153):1625-9. doi: 10.1126/science.8128251. PMID: 8128251.
  44. National Center for Biotechnology Information. ClinVar; [VCV000017078.3], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000017078.3 (accessed July 21, 2021).
  45. Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol. 2014 Aug;109(8):1159-79. doi: 10.1038/ajg.2014.186. Epub 2014 Jul 22. PMID: 25070057.
  46. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lahti M, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993 Dec 17;75(6):1215-25. doi: 10.1016/0092-8674(93)90330-s. PMID: 8261515.
  47. Rosty C, Walsh MD, Lindor NM, Thibodeau SN, Mundt E, Gallinger S, Aronson M, Pollett A, Baron JA, Pearson S, Clendenning M, Walters RJ, Nagler BN, Crawford WJ, Young JP, Winship I, Win AK, Hopper JL, Jenkins MA, Buchanan DD. High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. Fam Cancer. 2014 Dec;13(4):573-82. doi: 10.1007/s10689-014-9744-1. PMID: 25117503; PMCID: PMC4329248.
  48. Gammie AE, Erdeniz N, Beaver J, Devlin B, Nanji A, Rose MD. Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics. 2007 Oct;177(2):707-21. doi: 10.1534/genetics.107.071084. Epub 2007 Aug 24. PMID: 17720936; PMCID: PMC2034637.
  49. Lützen A, de Wind N, Georgijevic D, Nielsen FC, Rasmussen LJ. Functional analysis of HNPCC-related missense mutations in MSH2. Mutat Res. 2008 Oct 14;645(1-2):44-55. doi: 10.1016/j.mrfmmm.2008.08.015. Epub 2008 Sep 4. PMID: 18822302.
  50. Heinen CD, Wilson T, Mazurek A, Berardini M, Butz C, Fishel R. HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. Cancer Cell. 2002 Jun;1(5):469-78. doi: 10.1016/s1535-6108(02)00073-9. PMID: 12124176.
  51. National Center for Biotechnology Information. ClinVar; [VCV000001753.5], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000001753.5 (accessed July 21, 2021).
  52. Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol. 2014 Aug;109(8):1159-79. doi: 10.1038/ajg.2014.186. Epub 2014 Jul 22. PMID: 25070057.
  53. Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, Hollema H, Kleibeuker JH, Buys CH, Hofstra RM. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet. 1999 Nov;65(5):1291-8. doi: 10.1086/302612. PMID: 10521294; PMCID: PMC1288281.
  54. National Center for Biotechnology Information. ClinVar; [VCV000008932.10], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000008932.10 (accessed July 21, 2021).
  55. Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol. 2014 Aug;109(8):1159-79. doi: 10.1038/ajg.2014.186. Epub 2014 Jul 22. PMID: 25070057.
  56. Nicolaides NC, Littman SJ, Modrich P, Kinzler KW, Vogelstein B. A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. Mol Cell Biol. 1998 Mar;18(3):1635-41. doi: 10.1128/MCB.18.3.1635. PMID: 9488480; PMCID: PMC108878.
  57. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, et al. The molecular basis of Turcot’s syndrome. N Engl J Med. 1995 Mar 30;332(13):839-47. doi: 10.1056/NEJM199503303321302. PMID: 7661930.
  58. De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet. 2004 May;74(5):954-64. doi: 10.1086/420796. Epub 2004 Apr 7. PMID: 15077197; PMCID: PMC1181988.
  59. Parsons R, Li GM, Longley M, Modrich P, Liu B, Berk T, Hamilton SR, Kinzler KW, Vogelstein B. Mismatch repair deficiency in phenotypically normal human cells. Science. 1995 May 5;268(5211):738-40. doi: 10.1126/science.7632227. PMID: 7632227.
  60. Durno C, Aronson M, Bapat B, Cohen Z, Gallinger S. Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. Gut. 2005 Aug;54(8):1146-50. doi: 10.1136/gut.2005.066092. Epub 2005 Apr 21. PMID: 15845562; PMCID: PMC1774876.
  61. Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ. Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol. 2016 Apr;2(4):482-90. doi: 10.1001/jamaoncol.2015.5495. PMID: 26720728; PMCID: PMC4845939.
  62. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 Aug;135(2):419-28. doi: 10.1053/j.gastro.2008.04.026. Epub 2008 May 2. PMID: 18602922; PMCID: PMC2759321.
  63. National Center for Biotechnology Information. ClinVar; [VCV000009234.14], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000009234.14 (accessed July 21, 2021).
  64. Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3. PMID: 25645574; PMCID: PMC4695986.
  65. Gruber SB, Entius MM, Petersen GM, Laken SJ, Longo PA, Boyer R, Levin AM, Mujumdar UJ, Trent JM, Kinzler KW, Vogelstein B, Hamilton SR, Polymeropoulos MH, Offerhaus GJ, Giardiello FM. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res. 1998 Dec 1;58(23):5267-70. PMID: 9850045.
  66. National Center for Biotechnology Information. ClinVar; [VCV000007449.3], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007449.3 (accessed July 21, 2021).
  67. Guha T, Malkin D. Inherited TP53 Mutations and the Li-Fraumeni Syndrome. Cold Spring Harb Perspect Med. 2017 Apr 3;7(4):a026187. doi: 10.1101/cshperspect.a026187. PMID: 28270529; PMCID: PMC5378014.
  68. Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van ‘t Veer LJ. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429. PMID: 20522432.
  69. Hwang SJ, Lozano G, Amos CI, Strong LC. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet. 2003 Apr;72(4):975-83. doi: 10.1086/374567. Epub 2003 Feb 27. PMID: 12610779; PMCID: PMC1180359.
  70. Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D. Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408. PMID: 28572266.
  71. Malcikova J, Tichy B, Damborsky J, Kabathova J, Trbusek M, Mayer J, Pospisilova S. Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. Biol Chem. 2010 Feb-Mar;391(2-3):197-205. doi: 10.1515/bc.2010.027. PMID: 20128691.
  72. “Li-Fraumeni Syndrome.” Cancer.Net, 10 Mar. 2020, www.cancer.net/cancer-types/li-fraumeni-syndrome.
  73. National Center for Biotechnology Information. ClinVar; [VCV000012356.18], https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000012356.18 (accessed July 21, 2021).

Add-On Panels

ArielDx® Pharmacogenomics

ArielDx® Pharmacogenomics is a next-generation sequencing panel that analyzes data from 30 genes related to drug metabolism (pharmacokinetics) and action (pharmacodynamics). ArielDx Pharmacogenomics is a clinical genetic test and interpretation service. We incorporate patient-specific clinical data along with information from FDA prescription drug labeling and evidence-based clinical practice guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Our unique individualized approach provides informative and actionable PGx data in an easy-to-interpret report.
ABCG2, ADRB1, BCHE, CACNA1S, COMT, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, G6PD, GRK5, IFNL3, IFNL4, MT-RNR1, MTHFR, NAT2, NUDT15, OPRM1, POLG, RYR1, SCN1A, SLC28A3, SLCO1B1, TPMT, UGT1A1, VKORC1.
  • Provide guidance before a new medication is prescribed.
  • Patient history of poor drug response.
  • Patient history of adverse drug reactions.
  • Patient prescribed multiple medications.

Family history of poor response to medications.

Please note:

  • PGx testing is not available for all drugs.
  • ArielDx PGx does not test for all known or future PGx associations.
  • Current medications should not be changed based on PGx results without consulting with the prescriber.
  • ArielDx PGx can only be ordered as an add-on to a new or existing ArielDx Pancreatitis order.
  1. FDA (2020). Table of Pharmacogenetic Associations.
  2. Johnson JA, et al. (2017). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Pharmacogenomics-Guided Wafarin Dosing: 2017 Update. Clinical Pharmacology and Therapeutics.
  3. Moriyama B, et al. (2017). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy. Clinical Pharmacology and Therapeutics.
  4. Scott SA, et al. (2013). Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update. Clinical Pharmacology and Therapeutics.

ArielDx® Lipids

ArielDx Lipids is a next-generation sequencing panel for genes associated with abnormal lipid metabolism.

Abnormal lipid metabolism can increase an individual’s risk for developing cardiovascular disease, fatty liver disease, and pancreatitis. It is an established cause of pancreatitis, accounting for up to 10% of acute pancreatitis cases [1]. Variants in several genes can cause hereditary disorders of lipid metabolism or increase an individual’s risk for elevated triglycerides, a type of fat (lipid), in the blood. Genetic testing may be helpful in determining the underlying cause of a patient’s disease and provide clinical guidance for targeted treatment.

APOA5, APOC2, FABP4, LPL, PPARG, and a region of interest in APOB exon 29.

ArielDx Lipids may be appropriate for individuals with a personal or familial history of abnormal lipid metabolism and pancreatitis. It is available as an add-on to PancreasDx during the ordering process.

  1. de Pretis, Nicolò et al. “Hypertriglyceridemic pancreatitis: Epidemiology, pathophysiology and clinical management.” United European gastroenterology journal vol. 6,5 (2018): 649-655. doi:10.1177/2050640618755002.

How It Works

Ariel Precision Medicine ADVANCE cloud-based clinical decision support platform
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Ariel's Testing Process is Simple!

1

Place an order

You can place an order using our secure online portal or by faxing us an order requisition form.

2

Patient Registration

After the order has been placed, your patient will receive an email invitation to complete registration for testing.

3

DNA Collection

A saliva DNA collection kit will be shipped to your patient’s home. At this time, we will contact your patient to review their insurance coverage and any potential out-of-pocket costs. Additionally, if pre-test genetic counseling was ordered, a genetic counselor will reach out to the patient to schedule.

4

Receive Results

You will receive an email notification letting you know that the genetic report is ready to review. You will be able to review the report online.

Order an ArielDx Genetic Panel To Start Personalizing Your Patient's Care Plan Today!

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Frequently Asked Questions

For Pancreatitis

Identifying the underlying biological causes of your patient’s pancreatitis symptoms can help direct therapy and guide medical management specific to the patient’s disease process. For example, genetic conditions such as hereditary pancreatitis and cystic fibrosis can both increase the risk of pancreatitis, but involve different treatments and clinical considerations. Early detection of the cause or causes of the disease process may prevent extensive diagnostic evaluations, delayed diagnosis and more severe end-stage disease.

For Pancreatic Cancer Risk

Understanding your patient’s genetic risk for pancreatic cancer can help determine whether routine screenings or diagnostic testing should be administered for early detection and/or intervention.  Genetic testing is also recommended for all patients with pancreatic cancer regardless of family history [2].  Relatives of patients with pancreatic cancer who are found to have an inherited genetic variant may want to consider genetic testing to assess their risk.

For Pharmacogenomics

A person’s genetic variants can impact how they will respond to medications (pharmacogenomics, PGx). PGx data can help you identify patients who are more likely to respond to a medication or a specific medication dose. It can also help patients  avoid adverse drug events that are associated with specific genetic variants.

For Abnormal Lipid Metabolism

Abnormal lipid metabolism can increase an individual’s risk for developing cardiovascular disease, fatty liver disease, and pancreatitis. It is an established cause of pancreatitis, accounting for up to 10% of acute pancreatitis cases [1]. Variants in several genes can cause hereditary disorders of lipid metabolism or increase an individual’s risk for elevated triglycerides, a type of fat (lipid), in the blood. Genetic testing may be helpful in determining the underlying cause of a patient’s disease and provide clinical guidance for targeted treatment.

Ariel’s genetic analysis goes beyond genetics to incorporate genetic testing, patient medical and family history, patient biomarkers, and up-to-date management considerations to provide a comprehensive and actionable precision medicine report.

ArielDx Pancreatitis tests for predisposition to both Mendelian (monogenic) and complex (multifactorial) forms of disease. A minority of pancreatitis patients have a monogenic cause of disease. Therefore, testing for predisposing risk variants in addition to monogenic disease variants assures a complete picture of known genetic predisposition.

ArielDx Pancreatic Cancer analyzes genes associated with established risks for cancer and management guidelines. Larger gene panels for pancreatic cancer often contain low-evidence or low-penetrance genes for which there may be limited evidence for association with pancreatic cancer, undefined risk of pancreatic and other cancers, lack of clinically actionable findings and/or no medical management guidelines. The findings in these additional genes may be uninformative. Moreover, there is a higher likelihood of identifying a variant of uncertain significance which increases the risk of misinterpretation and patient mismanagement.  

Add-on panels, ArielDx Lipids and ArielDx PGx are an exceptional value at an affordable price. These panels offer additional insight to enable more targeted and personalized treatment plans.

Ariel is committed to a streamlined and convenient ordering and results disclosure process:

  1. ArielDx® Pancreatitis is a clinician-ordered test. To begin, create an account through the easy-to-use and secure Ariel online provider portal to place the order.
  2. Once the order is placed, your patient will receive an email from Ariel inviting them to register online, sign test consent forms, access help resources, and complete their health profiles. 
  3. A buccal swab kit will be mailed to your patient’s home. The patient will be provided with instructions to swab the inside of their cheek and return their DNA sample by mail.
  4. Upon receipt of the DNA sample, completion of genetic testing and subsequent expert review of the findings, your patient’s test results will be released electronically through the secure Ariel portal. Clinicians and staff have a centralized area for managing different patient orders, requesting genetic counseling, and electronic release of results to patients.

The process for adding an ArielDx Lipids or an ArielDx PGx order to an existing or completed order is:

  1. Log into your Ariel account.
  2. Select the appropriate patient from you dashboard or Patient tab.
  3. Once you are in the patient’s profile, select “Request Additional Analysis” on the right.
  4. Check the box next to ArielDx PGx and select “continue”.
  5. Authorize the order by checking the box and providing your signature. If you are submitting an order on behalf of an authorizing physician, his or her signature will be required before it can be processed.
    The authorizing provider will receive an email notification letting them know to complete this step.
  6. Results will be released electronically to your Ariel account.

Ariel accepts all insurance plans. As a new provider, we are not considered an in-network provider with all insurance plans. While the organization continues to grow, Ariel will work towards establishing in-network status.

The Ariel team follows the process below:

  1. When a physician orders ArielDx Pancreatitis or ArielDx Pancreatic Cancer the patient will receive a ‘Welcome’ email with a link to Ariel’s secure patient portal to register. During registration, they will be asked to provide their insurance information.
  2. The Ariel team will contact the patient’s insurance to verify eligibility and benefits to assess potential costs for the patient. It is important to note that initial determinations from the patient’s insurance are subject to change, based on the patient’s clinical record and the discretion of the insurer.
  3. Ariel’s billing team will contact the patient by phone to discuss benefits findings and the patient’s potential financial responsibility (i.e. co-pay, co-insurance, deductible). Ariel works with the patient’s insurance directly through the claims and appeals process. Our team will exhaust all efforts to obtain payment from the patient’s insurance plan to reduce or eliminate patient responsibility for the service. During the billing process, Ariel may ask the ordering provider to supply additional documentation to support the medical necessity of the service for your patient.

For add-on panels, Ariel offers a direct patient-pay price of $100 (per test) * to make testing more accessible for patients. Patients can choose to go through their insurance. However, the patient should be made aware that most insurance plans do not cover add-on tests, like ArielDx Lipids nor ArielDx PGx, and may result in out-of-pocket costs up to $1000. Patients will be prompted to select their payment method during the registration process.

Please note: Add-on testing cannot be completed until payment has been resolved.

*The patient-pay price cannot be offered after a claim has been submitted to the insurance.

Patients that select the direct pay option will pay the full $100 upfront. Ariel accepts checks and all major credit cards. Payments can be made through the Ariel Patient Portal, by phone at 844-692-7435 or by mail.

Checks should be made payable to: Ariel Precision Medicine

Mailing Address:

Ariel Precision Medicine
Attn: Accounts Receivable
5750 Centre Ave,
Suite 270
Pittsburgh, PA 15206
Ariel upholds the highest security measures to help ensure any personal information remains safe. We do not store cardholder data (“CHD”) in any cases.

Ariel is required by law to bill patients for applicable co-pays, co-insurance, and deductibles, as directed by their individual insurance benefit plan. Ariel will partner with the patient to implement the most appropriate payback plan based on the individual’s financial need.

Depending on the patient’s insurance plan, there may be situations where Ariel is considered an out-of-network provider and the payment for our test will be sent to the patient directly. The patient is legally responsible for re-issuing that payment, with a copy of the Explanation of Benefits, to Ariel for processing.

Yes. Ariel offers genetic counseling services for patients through an independent third-party genetic counseling provider over video or phone. Pre-test genetic counseling through a third-party is complimentary with every test, which clinicians can request with every order. A request for post-test genetic counseling can be made through the Ariel provider portal. At that time, the patient’s contact information and test results are provided to a third-party genetic counseling service. This third party service will contact the patient to discuss cost and scheduling.

Ariel offers educational materials on pancreatitis, genetic testing, complex disease and other pertinent topics for clinicians and patients inside the portal. Patient counseling materials for use during informed consent discussions and test ordering are available.

Ariel also offers genetic counseling services for patients through an independent third-party genetic counseling provider over video or phone. Pre-test genetic counseling through a third party is included as an option with every test, which clinicians can request with every order. A request for post-test genetic counseling can be made through the Ariel provider portal. At that time, the patient’s contact information and test results are provided to a third-party genetic counseling service. This third-party service will contact the patient to discuss cost and scheduling.

Please tell your patient to expect an email from Ariel. Once you place an order in the secure portal, Ariel will send your patient a ‘Welcome’ email with a link to Ariel’s secure patient portal to register. The patient can then follow the instructions in their email to register in Ariel’s online portal, provide their insurance information and complete the informed consents and their patient profile. Once the requisite forms are compete, Ariel dispatches a DNA testing kit to the patient’s house. This kit also has all the necessary instructions for collecting the sample and shipping it back to Ariel.

Ariel will be able to use sequence data from the previously collected samples. In instances in which the analysis is not possible, Ariel will send a new collection kit to the patient.

For new patient orders, the turnaround time for the test is approximately 4 to 6 weeks from the time the patient sample is received in our laboratory.

For patients that have previously had Ariel testing, the turnaround time for add-on panel results is 2-3 weeks from the time Ariel receives the additional order.

You will receive an email notification letting you know when the report released to your Ariel account for review.

Please contact contact@arielmedicine.com or 844-MYARIEL (692-7435) to request a sample report.
Don’t hesitate to reach out to Ariel’s Customer Service department, Monday through Friday, 8 a.m. – 8 p.m. EST at (844) 692-7435 or via info@arielmedicine.com.

Still Have Questions?

If you still have questions, we would love to answer them. Request a quick call with our team and we’ll be in touch.

REQUEST A CALL

1. de Pretis N, Amodio A, Frulloni L. Hypertriglyceridemic pancreatitis: Epidemiology, pathophysiology and clinical management. United European Gastroenterol J. 2018 Jun;6(5):649-655.

2. Allison Rosenzweig, PhD. “Which Patients Should Undergo Genetic Testing?” Pancreatic Cancer Action Network, PanCAN, 31 Jan. 2020, www.pancan.org/news/new-study-encourages-genetic-testing-for-all-pancreatic-cancer-patients-regardless-of-family-history/.