No-charge genetic testing for acute hepatic porphyria

Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals who may carry a gene mutation known to be associated with acute hepatic porphyria (AHP).

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

What is porphyria?

Porphyria is a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. Porphyria includes eight subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging.

Four of these subtypes, a family of diseases referred to as acute hepatic porphyria (AHP), result from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP).

The Alnylam Act® 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.

  • While Alnylam provides financial support for this program, tests and services are performed by independent third parties.
  • Healthcare professionals must confirm that patients meet certain criteria to use the program.
  • Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam uses healthcare professional contact information for research and commercial purposes.
  • Genetic testing is available in the US and Canada. Genetic counseling is only available in the US.
  • Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product.
  • No payers, including government payers, are billed for this program.

Eligibility

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Ordering instructions

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Program eligibility

Patient must be aged 16 years or older and meet one of the following criteria below:
  • Family history of acute hepatic porphyria
  • Elevated (greater than the upper limit or normal) urinary porphobilinogen (PBG) or aminolevulinic acid (ALA) levels
  • Unexplained recurrent (more than one), prolonged (>24 hours) episodes of severe, diffuse (poorly localized) abdominal pain AND at least TWO of the following:
  • Red to brownish urine

  • 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 may include the ability to:

  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and help prevent misdiagnosis
  • Help patients consider clinical trials

Genetic testing with Invitae

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

  • ALAD
  • CPOX
  • HMBS
  • PPOX
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Family testing

If the test comes back positive, Invitae offers genetic testing for all blood relatives of the original patient.

  • If a family member meets eligibility criteria, consider ordering the test 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 does offer family variant testing (FVT) at no charge to all of the original patient's blood relatives. Visit www.invitae.com/family-testing for details. Please note that FVT orders must be placed within 90 days of the original test report date to qualify.

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. Under Test Selection, click on the Partnership Programs tab and enter AHP in the Invitae Partner Code field.
  3. Use the search bar to select the Invitae Porphyrias Panel
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. 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 (blood or saliva)
  2. Collect the specimen and ship it back to Invitae
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information, see specimen and shipping requirements
To receive results:
  1. Once Invitae receives the sample, you will receive the results in 10–21 calendar 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 Corporation is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices.


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. 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 gene mutations known to be associated with acute hepatic 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.