CHOOSING

GENETIC TESTS

Several types of genetic tests are available¹

The choice of test may depend on information available about the specific patient. Sample requirements (blood, saliva, buccal swab, dried blood spot) and shipping methods vary among test providers. Information on test requirements and interpretation of the results will be furnished by the test provider.

Targeted, single-gene testing

Sequences a single gene to identify a variant¹

Multigene panel testing

Simultaneously analyzes multiple genes of interest to identify potential variants¹

Useful for screening or confirming a diagnosis when there is clinical suspicion based on symptoms/signs that could fit multiple conditions or be caused by variants of multiple genes^1,2

Comprehensive testing (whole genome or whole exome)

Can diagnose large numbers of diseases¹

Does not require the clinician to determine which gene is likely involved²

Typically used when single-gene or panel testing has not provided a diagnosis, or when the suspected condition or genetic cause is unclear¹

Broad tests (multigene panels or comprehensive testing) may identify a range of genetic variants but may:

1

Uncover a disease or disease-causing variant that was unexpected or not the cause of the patient’s symptoms^1,3

2

Identify one or more VUS, which may require additional interpretation or testing³

3

Incur additional costs for patients¹

Before ordering genetic testing

Consider identifying and partnering with a genetics professional, such as a geneticist or genetic counselor, who is easily accessible to you and your patient. They can assist both you and your patient along the journey or, if you prefer, can order or perform the required tests. Expectations for your patients should be set before testing can occur. Your genetics partner can help.

Medical geneticists are available in many areas and can be found at the American College of Medical Genetics and Genomics.

Genetic counselors can be found at the National Society of Genetic Counselors or the American Board of Genetic Counseling.

Learn more about interpreting genetic tests for Fabry disease

VUS, variant(s) of uncertain significance.

References: 1. Medline Plus. Genetic testing. Accessed April 29, 2025. https://medlineplus.gov/download/genetics/understanding/testing.pdf 2. Mehta A, Hughes DA. Fabry disease. In: Adam MP, Feldman J, Mirzaa GM, eds. GeneReviews. University of Washington, Seattle; 1993–2025. Accessed April 28, 2025. https://www.ncbi.nlm.nih.gov/books/NBK1292 3. Winder TL, Tan CA, Klemm S, et al. Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Neurol Genet. 2020;6(2):e412.