FHNext

The HoFH Genetic Testing program is a sponsored testing program that uses a 4-gene panel called FHNext, performed by Ambry Genetics, to look for genetic changes that cause homozygous familial hypercholesterolemia. HoFH happens when a person inherits a cholesterol-related gene change from each parent, leading to extremely high LDL cholesterol. Because HoFH is rare and can be misdiagnosed, this test can help your doctor confirm whether HoFH is the reason for your very high cholesterol levels. The program also includes no-cost genetic counseling to help you understand your results.

Yes, the HoFH Genetic Testing program is completely free to you. Regeneron sponsors the program and covers the full cost of the genetic test and the genetic counseling that comes with it. You will not receive a bill, a copay, or any charge. The test is performed by Ambry Genetics at no cost to you or your family.

The HoFH Genetic Testing program uses an easy-to-use saliva collection kit, so no blood draw is needed. Your healthcare provider will order the kit, and you simply provide a saliva sample. It is a simple, painless process that can be done without a trip to a lab for a blood draw.

The HoFH Genetic Testing program uses Ambry Genetics' FHNext panel, which tests four genes: APOB, LDLR, PCSK9, and LDLRAP1. These are the genes most closely linked to both homozygous (HoFH) and heterozygous (HeFH) familial hypercholesterolemia. Changes in these genes can explain why cholesterol levels are extremely high and help your doctor choose the best treatment path.

Yes, the HoFH Genetic Testing program includes no-cost genetic counseling. A genetic counselor can help you understand what the test involves before you take it, walk you through your results once they are ready, and help guide your next steps. This counseling is included as part of the program at no charge to you.

To get started with the HoFH Genetic Testing program, talk to your doctor about whether this test may be right for you. Your healthcare provider can order the saliva collection kit and submit the necessary paperwork. Once your sample is collected and sent to Ambry Genetics, the lab will process the test and your results will be shared with your doctor and discussed with you through the program's genetic counseling services.

Patients may qualify for HoFH Genetic Testing if they meet the program's eligibility criteria:

• You live in the United States
• You meet at least ONE of these cholesterol (LDL-C) criteria:
  • Untreated LDL-C (bad cholesterol) above 300 mg/dL
  • Treated LDL-C above 250 mg/dL while on one cholesterol-lowering medication
  • Treated LDL-C above 200 mg/dL while on two or more cholesterol-lowering medications
  • Another LDL-C level and treatment history consistent with HoFH
• AND you meet at least ONE of these history criteria:
  • Family history of familial hypercholesterolemia (FH) or early coronary artery disease (before 55 in men, 65 in women)
  • Personal history of early coronary artery disease (before 55 in men, 65 in women)
  • Personal history of cholesterol deposits in the tendons or skin (xanthomas)
  • Personal history of a cholesterol ring around the cornea (corneal arcus) before age 45
  • Personal history of aortic stenosis