Sponsored genetic testing and genetic counseling are available for eligible patients regardless of insurance coverage or financial need.
Sponsored genetic testing and genetic counseling are available for eligible patients whether or not the patient has insurance or the patient’s insurance covers the test. Patients are not required to provide documentation that they are uninsured or that their insurance has denied coverage of the test.
Patients do not need to meet financial need criteria, such as having an income below a certain amount.
As long as the patient satisfies the clinical eligibility criteria to establish that the test is medically appropriate, the test and test results are available to the patient and his or her physician without any requirement whatsoever that the patient or physician take or withhold from any act based upon the test results they receive. This sponsored genetic testing program is provided so that patients and physicians can make better informed decisions about the patient’s appropriate course of treatment.

Testing Performed

APDS occurs when there is a disease-causing variant in either one of two specific genes, the PIK3CD gene or the PIK3R1 gene, in an autosomal dominant mode of inheritance. Healthcare professionals ordering tests for eligible patients under the sponsored testing program may select one of two genetic testing panels offered by Invitae (now part of Labcorp) to identify genetic variants associated with a broad range of inherited disorders of the immune system. Both panels include testing for the gene variants in PIK3CD or PIK3R1 that may indicate APDS. A positive test for either one of the two genes (PIK3CD or PIK3R1) may result in a definitive molecular diagnosis of APDS.
The Invitae Primary Immunodeficiency Panel analyzes genes that are associated with inherited disorders of the immune system. These genes were selected based on the available evidence to date and comprise Invitae’s (now part of Labcorp) broadest test for primary immunodeficiencies (PIDs).
The Invitae Inborn Errors of Immunity and Cytopenias Panel analyzes genes that are associated with inherited disorders of the immune system including inherited causes of cytopenia such as bone marrow failure and hereditary lymphoma. These genes were selected based on the available evidence to date and comprise 
Invitae’s broadest test for inborn errors of immunity.

Information Sharing and Outreach

Invitae (now part of Labcorp) will send the results of a test performed under the sponsored genetic testing program to the ordering healthcare professional.
Pharming Healthcare, Inc., as the sponsor of the genetic testing program, pays Invitae (now part of Labcorp) for and receives information about the number of tests performed under the program. For patients who are covered under commercial insurance or who do not have insurance, Pharming Healthcare also receives additional information for each test performed. Information provided to the testing program sponsor includes a random patient identification number assigned by the laboratory, the criteria that the patient met in order to be eligible for sponsored testing, certain patient demographic information such as age and sex, patient clinical history (including any family history of disease) provided on the test requisition form, information about the healthcare professional who ordered the test such as their name and contact information, and variants identified on the panel along with their classification. Information provided does not include the patient’s name, date of birth, or contact information.
If a patient tests positive for one of the disease-causing variants in PIK3CD or PIK3R1 that indicate APDS, Pharming Healthcare, Inc. may use the test-specific information received about anonymous uninsured patients and patients with commercial insurance to reach out to the ordering healthcare professional. The outreach may seek to provide the healthcare professional with additional information about APDS and a potential treatment option.

Some insurers may require that a patient test positive for one of the disease-causing variants (PIK3CD or PIK3R1) that indicate APDS before the insurer will approve coverage for targeted APDS treatment. Test results are not shared directly with insurers. However, the patient or their provider may choose to share test results with their insurer.

IMPORTANT CHANGE

The requisition form for ordering tests under the sponsored testing program now requires that the ordering healthcare professional indicate whether the patient is currently covered under a governmental insurance program.
Effective February 1, 2024, Pharming Healthcare, Inc. no longer receives ordering provider information for participating patients from the US, Canada, and Puerto Rico who are covered under governmental insurance programs such as Medicare and Medicaid. Completion of the new questionnaire allows Invitae (now part of Labcorp) to identify those patients to ensure the ordering provider information is no longer shared. This change does not affect patient eligibility. Patients covered under a governmental insurance program may still be eligible to receive testing and the results of that testing at no charge.