Genetic Testing & Counseling

Genetic Testing and Counseling for the Following Conditions

Hereditary ATTR (hATTR) amyloidosis

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.

Acute hepatic porphyria (AHP)

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.
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.

Primary hyperoxaluria type 1 (PH1)

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.


How Genetic Testing Works

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.


Step 1:

Select a Condition
Select one of the conditions ABOVE and determine your patient’s eligibility.

Step 2:

Start Your Order
Order a genetic test to confirm if your patient has or is at risk of developing a certain genetic condition.

Step 3:

Submit Patient Sample
Collect and submit a sample using one of Invitae’s test kits.

Step 4:

Review Results
Receive results in 10-21 calendar days, on average.

For assistance with genetic testing, please visit Invitae or call 1-800-436-3037.

How Genetic Counseling Works

Genetic counseling is a 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.


Refer Your Patient for Genetic Counseling

  • In the U.S.:
    • Instruct your patient to call Invitae at 1-800-436-3037 if they have questions for a genetic counselor
    • Patient may ask questions throughout the process, and an appointment may be scheduled through the patient portal once testing is completed
  • In Canada:

Prepare Your Patient for the Appointment

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.


Receive Results

  • In the U.S., Invitae will provide you with a detailed summary report through the online portal
  • In Canada:
    • hATTR amyloidosis patients and physicians receive a written consultation summary in their Invitae Portal
    • For AHP/PH1 patients, the report is sent to the physician

We’re Committed to Privacy

While the program is sponsored by Alnylam Pharmaceuticals, all services are performed by independent third parties. 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.


Clinical Trials

Find out about studies evaluating the safety and effectiveness of our treatment options.

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