Behind the Seizure^®: epilepsy

Invitae and BioMarin have partnered to offer pediatric epilepsy testing at no cost to the patient. With more than 50% of epilepsies linked to a genetic basis, early testing may be the most direct, cost-effective, and accurate diagnostic tool.

Does my patient qualify?

Alnylam Act^®: Acute Hepatic Porphyria

Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals (over 16 years of age) who may carry a genetic mutation associated with acute hepatic porphyria (AHP), 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.

Does my patient qualify?

Alnylam Act^®: Primary Hyperoxaluria Type 1

Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals who may carry a genetic mutation associated with primary hyperoxaluria type 1, a rare genetic disorder that leads to progressive renal failure and multiorgan damage once the disease advances.

Does my patient qualify?

SMA Identified

Biogen, together with Invitae, is offering no-charge genetic testing to patients suspected of having or clinically diagnosed with spinal muscular atrophy (SMA). The SMA Identified Program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA.

Does my patient qualify?

1. Request free kits for collecting patient specimens

• Simply use our online form.

2. Order a test using Invitae’s HIPAA-compliant online portal or on paper

• Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options.

• Patients can also contact Client Services for billing and insurance-related questions.

3. Receive an email when your results are ready (10-21 calendar days, on average)

• If you have any questions about the results or their clinical implications, our genetic counselors are available to discuss.