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Genetic Testing & Counseling | Alnylam Act® | Guide for HCPs
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<div class="paragraph paragraph--type--language-links paragraph-id--1514 paragraph--view-mode--default"> <div class="language-switcher-main"> <span class="label-text"> <div class="field field--name-field-label field--type-string field--label-hidden field--item">Ireland </div> </span><span class="link-text"> <div class="field field--name-field-link1 field--type-link field--label-hidden field--items"> <div class="field--item"><a href="/alnylam-ireland">English</a></div> </div> </span> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--language-links paragraph-id--123 paragraph--view-mode--default"> <div class="language-switcher-main"> <span class="label-text"> <div class="field field--name-field-label field--type-string field--label-hidden field--item">United Kingdom</div> </span><span class="link-text"> <div class="field field--name-field-link1 field--type-link field--label-hidden field--items"> <div class="field--item"><a href="/alnylam-uk">English</a></div> </div> </span> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--language-links paragraph-id--122 paragraph--view-mode--default"> <div class="language-switcher-main"> <span class="label-text"> <div class="field field--name-field-label field--type-string field--label-hidden field--item">Italy</div> </span><span class="link-text"> <div class="field field--name-field-link1 field--type-link field--label-hidden field--items"> <div class="field--item"><a href="https://www.alnylam.it/">Italiano</a></div> </div> </span> </div> </div> </div> </div> </section> </div> </div> </div> </div> </header> <div id="maindiv" class="container-fluid"> <main id="midcontent-area" class="column main-content"> <div id="content"> <div class="region region-content"> <div data-drupal-messages-fallback class="hidden"></div> <article data-history-node-id="92" role="article" about="/medical-professional-resources/genetic-testing-counseling" typeof="schema:WebPage" class="page full clearfix"> <span property="schema:name" content="Genetic Testing & Counseling" class="hidden"></span> <div class="content"> <div class="field field--name-field-add-section field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--sim paragraph-id--381 paragraph--view-mode--default"> <div id="simple-banner-wrapper"> <div class="simple-banner" style=""> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2024-09/genetic-testing.png" width="2560" height="768" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <div class="quote" style="width:1150px; margin:auto;"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item"><p>Julio (middle), diagnosed with hATTR amyloidosis</p> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--banner-overlay-html-content paragraph-id--382 paragraph--view-mode--default"> <div class="banner-overlay-html-content-description--component " style="width:1130px; margin:auto;"> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item"><p class="mobile-eyebrow"><span class="our-secondary-dark">Medical Professionals</span></p> <h1 class="secondary-dark text-align-center"><strong>GENETIC TESTING AND COUNSELING PROGRAM</strong></h1> <h2 class="text-align-center">Alnylam Act®</h2> <p class="text-align-center font-20">Alnylam Act® is a sponsored, no-charge, third party genetic testing and counseling program for patients with a family history or suspected diagnosis of hereditary ATTR (hATTR) amyloidosis, acute hepatic porphyria, or primary hyperoxaluria type 1.</p> <p>The Alnylam Act® program was developed to reduce barriers to <a href="#genetic-testing">genetic testing</a> and <a href="#genetic-counselling-work">counseling</a>, and to help people make more informed decisions about their health. Through the Alnylam Act® program, genetic testing and counseling is offered at no charge to individuals who meet the eligibility criteria. Both genetic testing and genetic counseling <strong>are available in the United States and Canada.</strong></p> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--accordion-1-column-expanded-cont paragraph-id--455 paragraph--view-mode--default"> <div id="accordion-column-content" style=" padding: 32px 125px 64px 125px;"> <div class="accordion-inner-content" style="width:1030px; margin:auto;"> <h2 class="text-align-center"> <div class="field field--name-field-heading-1 field--type-string field--label-hidden field--item">Genetic Testing and Counseling for the Following Conditions</div> </h2> <div class="content"> <div class="field field--name-field-accordion-1-column-expande field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--accordion-1-column-expanded-fiel paragraph-id--452 paragraph--view-mode--default"> <div id=accordion-id--452 class="accordion-column-fields" style="margin:auto; background-color: #f8f8f8;"> <div class="row inner-block-1"> <div class="col-sm-10 field-heading"> <div class="field field--name-field-heading-2 field--type-string field--label-hidden field--item">Hereditary ATTR (hATTR) amyloidosis</div> </div> <a data-colorbox-inline=".popup-content-452" style="width: 650px; height:400px;"> <div class="col-sm-2 order-test-button">ORDER TEST ›</div> </a> </div> <div class="row inner-block-2"> <div class="col-sm-10"> <div class="field field--name-field-description-text-area field--type-text-long field--label-hidden field--item"><p id="_ahp">hATTR amyloidosis is a rare, rapidly progressive, debilitating, and often fatal disease. hATTR amyloidosis is an autosomal dominant disease, meaning it can be inherited from one parent, and is caused by a variant in the transthyretin (TTR) gene. The gene variant results in misfolded TTR proteins, which accumulate as amyloid deposits in multiple sites in the body including the nerves, heart, and gastrointestinal (GI) tract.</p> </div> </div> <div class="col-sm-2 expand-accordion"> <img class="close-accordian" style="display:none;" src="/themes/custom/alnylam/images/minus.png" alt="minus"/> <img class="open-accordian" src="/themes/custom/alnylam/images/add.png" alt="minus"/> </div> </div> <div class="accordion-content" style="display:none;"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item"><h3>Want more info?</h3> <p class="widget"><span class="widget-line-our-science"> </span></p> <h2>For Patients:</h2> <p>Download and share our brochure for patients on <a href="/sites/default/files/pdfs/alnylam-act-hattr-patient.pdf" rel="noopener" target="_blank">Alnylam Act<sup>®</sup> for hATTR amyloidosis</a>.</p> <p> </p> <h2>For Healthcare Professionals:</h2> <p>Download and share our brochure for healthcare professionals on <a href="/sites/default/files/pdfs/alnylam-act-hattr-provider.pdf" rel="noopener" target="_blank">Alnylam Act<sup>®</sup> for hATTR amyloidosis</a>.</p> </div> </div> <div class="popup-content-452 popup-content" style="display:none; background:#fff;"> <div class="field field--name-field-video-desc field--type-text-long field--label-hidden field--item"><h1 class="text-align-center">YOU ARE NOW LEAVING ALNYLAM.COM</h1> <p class="text-align-center">The following content may not be associated with Alnylam Pharmaceuticals. Links to all outside sites are provided as a reference for our visitors. Alnylam Pharmaceuticals does not endorse and is not responsible for the content on sites that are not owned and operated by Alnylam Pharmaceuticals.</p> <p class="text-align-center"><a data-do-default="true" href="http://www.preventiongenetics.com/sponsoredTesting/ttr" rel="noopener noreferrer" target="_blank">Proceed to Site</a></p> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--accordion-1-column-expanded-fiel paragraph-id--453 paragraph--view-mode--default"> <div id=accordion-id--453 class="accordion-column-fields" style="margin:auto; background-color: #f8f8f8;"> <div class="row inner-block-1"> <div class="col-sm-10 field-heading"> <div class="field field--name-field-heading-2 field--type-string field--label-hidden field--item">Acute hepatic porphyria (AHP)</div> </div> <a data-colorbox-inline=".popup-content-453" style="width: 650px; height:400px;"> <div class="col-sm-2 order-test-button">ORDER TEST ›</div> </a> </div> <div class="row inner-block-2"> <div class="col-sm-10"> <div class="field field--name-field-description-text-area field--type-text-long field--label-hidden field--item"><p id="_ph1">AHP is a family of rare genetic diseases characterized by potentially life-threatening attacks, and for some people, chronic debilitating symptoms that negatively impact daily function and quality of life. Some types of AHP can have symptoms that affect the skin—specifically blistering skin lesions on sun-exposed areas. Skin symptoms can be present with or without attacks.<br /> <br /> All four types of AHP—acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficient porphyria (ADP)—are characterized by acute, potentially life-threatening attacks and in some patients, chronic debilitating symptoms that negatively impact patients’ quality of life.</p> </div> </div> <div class="col-sm-2 expand-accordion"> <img class="close-accordian" style="display:none;" src="/themes/custom/alnylam/images/minus.png" alt="minus"/> <img class="open-accordian" src="/themes/custom/alnylam/images/add.png" alt="minus"/> </div> </div> <div class="accordion-content" style="display:none;"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item"><h3>Want more info?</h3> <p class="widget"><span class="widget-line-our-science"> </span></p> <h2>For Patients:</h2> <p>Download and share our brochure for patients on <a href="/sites/default/files/pdfs/Alnylam_Act_AHP_Patient_0.pdf" rel="noopener" target="_blank">Alnylam Act<sup>®</sup> for acute hepatic porphyria</a>.</p> <p> </p> <h2>For Healthcare Professionals:</h2> <p>Download and share our brochure for healthcare professionals on <a href="/sites/default/files/pdfs/Alnylam_Act_AHP_Provider.pdf" rel="noopener" target="_blank">Alnylam Act<sup>®</sup> for acute hepatic porphyria</a>.</p> </div> </div> <div class="popup-content-453 popup-content" style="display:none; background:#fff;"> <div class="field field--name-field-video-desc field--type-text-long field--label-hidden field--item"><h1 class="text-align-center">YOU ARE NOW LEAVING ALNYLAM.COM</h1> <p class="text-align-center">The following content may not be associated with Alnylam Pharmaceuticals. Links to all outside sites are provided as a reference for our visitors. Alnylam Pharmaceuticals does not endorse and is not responsible for the content on sites that are not owned and operated by Alnylam Pharmaceuticals.</p> <p class="text-align-center"><a data-do-default="true" href="http://www.preventiongenetics.com/sponsoredTesting/ahp" target="_blank">Proceed to Site</a></p> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--accordion-1-column-expanded-fiel paragraph-id--454 paragraph--view-mode--default"> <div id=accordion-id--454 class="accordion-column-fields" style="margin:auto; background-color: #f8f8f8;"> <div class="row inner-block-1"> <div class="col-sm-10 field-heading"> <div class="field field--name-field-heading-2 field--type-string field--label-hidden field--item">Primary hyperoxaluria type 1 (PH1)</div> </div> <a data-colorbox-inline=".popup-content-454" style="width: 650px; height:400px;"> <div class="col-sm-2 order-test-button">ORDER TEST ›</div> </a> </div> <div class="row inner-block-2"> <div class="col-sm-10"> <div class="field field--name-field-description-text-area field--type-text-long field--label-hidden field--item"><p id="_gtw">PH1 is a progressive genetic disease that is potentially life-threatening and often presents with calcium oxalate kidney stones. Calcium oxalate crystals are insoluble and toxic and lead to serious disease manifestations, including recurrent kidney stones, nephrocalcinosis, progressive renal failure, and multiorgan damage from systemic oxalosis once the disease advances.</p> </div> </div> <div class="col-sm-2 expand-accordion"> <img class="close-accordian" style="display:none;" src="/themes/custom/alnylam/images/minus.png" alt="minus"/> <img class="open-accordian" src="/themes/custom/alnylam/images/add.png" alt="minus"/> </div> </div> <div class="accordion-content" style="display:none;"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item"><h3>Want more info?</h3> <p class="widget"><span class="widget-line-our-science"> </span></p> <h2>For Patients:</h2> <p>Download and share our brochure for patients on <a href="/sites/default/files/pdfs/Alnylam_Act_PH1_Patient_Brochure.pdf" rel="noopener" target="_blank">Alnylam Act<sup>®</sup> for primary hyperoxaluria type 1</a>.</p> <p> </p> <h2>For Healthcare Professionals:</h2> <p>Download and share our brochure for healthcare professionals on <a href="/sites/default/files/pdfs/Alnylam_Act_PH1_Provider_Brochure.pdf" rel="noopener" target="_blank">Alnylam Act<sup>®</sup> for primary hyperoxaluria type 1</a>.</p> </div> </div> <div class="popup-content-454 popup-content" style="display:none; background:#fff;"> <div class="field field--name-field-video-desc field--type-text-long field--label-hidden field--item"><h1 class="text-align-center">YOU ARE NOW LEAVING ALNYLAM.COM</h1> <p class="text-align-center">The following content may not be associated with Alnylam Pharmaceuticals. Links to all outside sites are provided as a reference for our visitors. Alnylam Pharmaceuticals does not endorse and is not responsible for the content on sites that are not owned and operated by Alnylam Pharmaceuticals.</p> <p class="text-align-center"><a data-do-default="true" href="http://www.preventiongenetics.com/sponsoredTesting/ph1" target="_blank">Proceed to Site</a></p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--full-html-content-with-backgroun paragraph-id--399 paragraph--view-mode--default"> <div id="full-html-content-background" class="" style="background-color: rgba(185, 217, 235, 0.16) ;"> <div class="row inner-block" style="width:px; margin:auto;"> <div class="field field--name-field-html-content-bg field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--body paragraph-id--398 paragraph--view-mode--default"> <div class="description--component" style="width:1170px; margin:auto; "> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item"><div id="genetic-testing"> <h2 class="text-align-center">How Genetic Testing Works</h2> <p class="text-align-center margin-bottom-32px">Alnylam Act® provides genetic testing that can identify DNA mutations that may lead to a genetic condition. The results of a genetic test can confirm or rule out a suspected genetic disease or help determine someone’s chance of developing or passing on a genetic condition.</p> <div class="row genetic-testing"> <div class="col-sm-3"> <div class="img"><img alt="1" data-entity-type="file" data-entity-uuid="a878702b-755f-4d61-aea8-b182dd04ef68" src="/sites/default/files/inline-images/icon-talk_144x144.png" class="align-center" width="144" height="144" loading="lazy" /></div> <div class="step"> <p>Step 1:</p> </div> <div class="heading">Select a Condition</div> <div class="desc">Select one of the conditions above and determine your patient’s eligibility.</div> </div> <div class="col-sm-3"> <div class="img"><img alt="2" data-entity-type="file" data-entity-uuid="4fd139e3-8503-4b46-b5d1-c428c63168d1" src="/sites/default/files/inline-images/icon-computer_144x144.png" class="align-center" width="144" height="144" loading="lazy" /></div> <div class="step"> <p>Step 2:</p> </div> <div class="heading">Start Your Order</div> <div class="desc">Order a genetic test to confirm if your patient has or is at risk of developing a certain genetic condition.</div> </div> <div class="col-sm-3"> <div class="img"><img alt="3" data-entity-type="file" data-entity-uuid="b67594de-6092-4c8c-b78f-632a630ea5e2" src="/sites/default/files/inline-images/icon-sample_144x144.png" class="align-center" width="144" height="144" loading="lazy" /></div> <div class="step"> <p>Step 3:</p> </div> <div class="heading">Submit Patient Sample</div> <div class="desc">Collect and submit a sample using one of PreventionGenetics' test kits.</div> </div> <div class="col-sm-3"> <div class="img"><img alt="4" data-entity-type="file" data-entity-uuid="2a03fb0b-c0d5-4ceb-980a-58adb4f3650f" src="/sites/default/files/inline-images/icon_doc-144x144-1.png" class="align-center" width="144" height="144" loading="lazy" /></div> <div class="step"> <p>Step 4:</p> </div> <div class="heading">Review Results</div> <div class="desc">Receive results in 3-4 weeks, on average.</div> </div> </div> <p class="bottom-text" id="_counselling">For assistance with genetic testing, please <a data-colorbox-inline=".vitae" href="https://www.preventiongenetics.com/contactUs">visit PreventionGenetics</a> or call <a href="tel:7153870484" style="white-space:nowrap">(715) 387-0484</a>.</p> <div class="popup-content vitae" style="display:none; background:#fff;"> <h2 class="text-center">YOU ARE NOW LEAVING ALNYLAM.COM</h2> <p class="text-center">The following content may not be associated with Alnylam Pharmaceuticals. Links to all outside sites are provided as a reference for our visitors. Alnylam Pharmaceuticals does not endorse and is not responsible for the content on sites that are not owned and operated by Alnylam Pharmaceuticals.</p> <p class="text-center"><a href="https://www.preventiongenetics.com/contactUs" target="_blank">Proceed to Site</a></p> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--body paragraph-id--400 paragraph--view-mode--default"> <div class="description--component" style="width:1170px; margin:auto; "> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item"><div id="genetic-counselling-work"> <h2 class="text-align-center">How Genetic Counseling Works</h2> <p class="margin-bottom-0px">Genetic counseling is an optional service available to patients in the U.S. and Canada that provides information and support for patients who have, or may be at risk for, genetic conditions. Genetic counselors are trained healthcare professionals who can discuss genetics, inheritance, and disease risk, as well as the benefits, limitations, and potential implications of genetic testing. Alnylam has partnered with a third party, Genome Medical, to provide no-charge genetic counseling services to any patient who enrolls in the Alnylam Act program.</p> <div class="row genetic-counseling"> <div class="col-sm-2"><img alt="1" data-entity-type="file" src="/sites/default/files/inline-images/Refer_Patient.svg" /></div> <div class="col-sm-10"> <h3>Refer Your Patient for Genetic Counseling</h3> <p>Select pre-test and/or post-test genetic counseling when filling out the test requisition form.*</p> </div> </div> <div class="row genetic-counseling"> <div class="col-sm-2"><img alt="2" data-entity-type="file" src="/sites/default/files/inline-images/icons-prepare-144.svg" /></div> <div class="col-sm-10"> <h3>Prepare Your Patient for the Appointment</h3> <p>We recommend the patient sets aside thirty minutes free from interruptions or distractions. The patient may consider asking family members about their family medical history ahead of the appointment. It is helpful for the genetic counselor to understand if any family members have been diagnosed with medical conditions and at what age they were diagnosed.</p> </div> </div> <div class="row genetic-counseling"> <div class="col-sm-2"><img alt="3" data-entity-type="file" src="/sites/default/files/inline-images/icons-receive-results-144.svg" /></div> <div class="col-sm-10"> <h3>Receive Results</h3> <p>Genome Medical will email a summary report to the patient, and patients may access the report through the online portal. The patient may then share the report results with you*</p> <p> </p> <small>*If the test result is negative, Genome Medical will provide the patient with an educational video explaining the results.</small></div> </div> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--accordion-1-column-expanded-cont paragraph-id--626 paragraph--view-mode--default"> <div id="accordion-column-content" style=" padding: 32px 125px 64px 125px;"> <div class="accordion-inner-content" style="width:1030px; margin:auto;"> <h2 class="text-align-center"></h2> <div class="content"> <div class="field field--name-field-accordion-1-column-expande field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--accordion-1-column-expanded-fiel paragraph-id--625 paragraph--view-mode--default"> <div id=accordion-id--625 class="accordion-column-fields" style="margin:auto; background-color: #f8f8f8;"> <div class="row inner-block-1"> <div class="col-sm-10 field-heading"> <div class="field field--name-field-heading-2 field--type-string field--label-hidden field--item">We’re Committed to Privacy</div> </div> </div> <div class="row inner-block-2"> <div class="col-sm-10"> <div class="field field--name-field-description-text-area field--type-text-long field--label-hidden field--item"><p>While the program is sponsored by Alnylam Pharmaceuticals, all services are performed by independent third parties. The Alnylam Act<sup>®</sup> program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health.</p> </div> </div> <div class="col-sm-2 expand-accordion"> <img class="close-accordian" style="display:none;" src="/themes/custom/alnylam/images/minus.png" alt="minus"/> <img class="open-accordian" src="/themes/custom/alnylam/images/add.png" alt="minus"/> </div> </div> <div class="accordion-content" style="display:none;"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item"><ul><li>While Alnylam provides financial support for this program, tests and services are performed by independent third parties</li> <li>Healthcare professionals must confirm that patients meet certain criteria to use the program</li> <li>Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive<br /> patient-identifiable information. Alnylam may use healthcare professional contact information for research purposes</li> <li>Both genetic testing and genetic counseling are available in the U.S. and Canada.</li> <li>Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product</li> <li>No patients, healthcare professionals, or payers, including government payers, are billed for this program</li> </ul></div> </div> <div class="popup-content-625 popup-content" style="display:none; background:#fff;"></div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--_-column-card paragraph-id--405 paragraph--view-mode--default"> <div id="two-column-card" style="background: ;"> <div style="width: 1170px; margin:auto;"> <div class="field field--name-field-heading-image-description field--type-entity-reference-revisions field--label-hidden 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