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 several subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging 

The four types of acute hepatic porphyria (AHP) are acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP). These four types result from a genetic defect leading to a deficiency in one of the enzymes of the heme biosynthesis pathway in the liver

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 certain other countries. Genetic counseling is 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 patients, healthcare professionals, or payers, including government payers, are billed for this program.

Eligibility

Learn more

Ordering instructions

Learn more

Program eligibility

Patient must be pubescent or older and meet one of the following criteria below:
  • Family history of acute hepatic porphyria
  • Elevated (> upper limit of 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 < lower limit of normal], 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 10 genes associated with acute hepatic porphyria:

  • ALAD
  • ALAS2
  • CLPX
  • CPOX
  • FECH
  • GATA1
  • HMBS
  • PPOX
  • UROD
  • UROS
View panel

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place your paper-based order, complete the Invitae paper order form for Alnylam Act® AHP, and fax it to 415-276-4164, or insert the form in the Invitae specimen collection kit before shipment. 

2. Submit patient sample

Collect a sample using Invitae’s specimen collection kit (blood, buccal, or saliva). If an Invitae specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

*Note: Invitae offers the ability to send buccal or saliva collection kits directly to patients for at-home collection.

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

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, buccal, 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.