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Genetic testing for the acute hepatic porphyrias, at no charge

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No-charge genetic testing for the acute hepatic porphyrias

Invitae and Alnylam have partnered to offer genetic testing at no charge for individuals who may carry a gene mutation known to be associated with the acute hepatic porphyrias (AHPs).

On average, it takes 15 years from symptom onset for a patient to receive a correct diagnosis of AHP.1 The Alnylam ActTM program was developed to reduce barriers to genetic testing and counseling in order to help people make more informed decisions about their health.

Through the Alnylam Act program, genetic testing is available in the US and Canada. While Alnylam provides financial support for this program, at no time does Alnylam receive patient identifiable information. Alnylam does receive contact information for healthcare providers who use this program.

What is porphyria?

Porphyrias are a group of rarely diagnosed disorders that are classified based on the predominant site of enzyme defect and where heme precursors accumulate in the heme biosynthesis pathway.

The acute hepatic porphyrias—including acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficient porphyria (ADP)—are characterized by acute, potentially life-threatening attacks and chronic, debilitating symptoms that negatively impact patients’ quality of life.

Eligibility

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Test

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Ordering instructions

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Program eligibility
  • Patient is at least 16 years old with elevated (greater than the upper limit of normal) urinary porphobilinogen (PBG) or aminolevulinic acid (ALA) levels


OR
  • Patient is at least 16 years old with unexplained recurrent (more than one), prolonged (>24 hours) episodes of severe, diffuse (poorly localized) abdominal pain, AND
  • At least 2 of the following:
    • Red to brownish urine
    • Known or suspected family history of an acute hepatic porphyria
    • Blistering skin lesions on sun-exposed areas
    • Peripheral nervous system manifestations occurring around the time of abdominal pain (i.e., motor neuropathy [paresis], sensory neuropathy [numbness, tingling, limb pain])
    • Central nervous system manifestations occurring around the time of abdominal pain (i.e., confusion, anxiety, seizures, hallucinations)
    • Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e., hyponatremia [Na < LLN], tachycardia, hypertension, nausea and vomiting, constipation)

Benefits of testing

The benefits of genetic testing include the ability to:

  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and help prevent misdiagnoses
  • Help determine if patients are eligible to participate in clinical trials
  • Provide information about support services such as patient advocacy organizations

Genetic testing with Invitae

The Alnylam Act program offers testing for the 4 genes associated with the acute hepatic porphyrias:

  • ALAD
  • CPOX
  • HMBS
  • PPOX
     
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Family testing

If the test comes back positive, Invitae encourages genetic testing for first-degree relatives of the original patient.

  • If a family member meets eligibility criteria, order testing through the Alnylam Act program.

  • Family members who don't meet eligibility criteria do not currently qualify for testing under the Alnylam Act program. However, Invitae can offer family variant testing at no charge. Learn more

Ordering made easy

Place your order Collect a sample Results

To place a paper-based order, download the paper order form.

To place an order online:

  1. Sign up for an account and start a new order
  2. Enter the partner code AHP in the Invitae Partner Code field
  3. Under Test Type, select Panel/Gene Test
  4. Fill in the required patient information
  5. Search for and select the Invitae Acute Hepatic Porphyrias Panel for test selection
  6. Under Billing Information, select Institutional Billing and leave all fields blank
  7. Complete the Order Authorization section and submit the order
  8. Fill out, print and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen
 To collect a specimen:
  1. Order a specimen collection kit
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information on specimen requirements, please click here
 To receive results:
  1. Once Invitae receives the sample, you will receive the results in 10–21 calendar days (14 days on average)
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

Support every step of the way

Client services

Available to answer your questions or help you through the testing process.

CONTACT

Sponsored genetic counseling

Alnylam is sponsoring no-charge, telephone-based genetic counseling for patients in the U.S. For assistance with genetic counseling or to schedule an appointment, please call InformedDNA, the third-party genetic counseling service, at 888-475-3128.

Learn more

Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.
  • Sample options: blood and saliva kits provided free of charge.
  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development.

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.


About Alnylam

Alnylam is leading the translation of RNAi as a new class of innovative medicines, with a core focus on RNAi therapeutics toward genetically defined targets for the treatment of serious, life-threatening diseases with limited treatment options for patients and their caregivers. RNAi therapeutics offer a modular and reproducible approach for development and commercialization of innovative medicines. Alnylam is sponsoring no-charge, third-party genetic testing and counseling for individuals who may carry a gene mutation known to be associated with porphyria. For more information, visit www.AlnylamAct.com.


 

1Bonkovsky HL et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014 Dec; 127(12):1233-41.