Genetic Testing and Counseling for the Following Conditions
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.
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.
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
How Genetic Counseling Works
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
- 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.
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.