Additional ordering information for providers from New York State.
For patients seeking more information, please see FAQs.
Genetic testing may place a definitive diagnosis within reach*
Differentiating among hereditary anemias (HAs) is exceedingly complex. HAs comprise a range of highly heterogeneous disorders that occur infrequently across the general population. More than 70 genetic mutations are involved, with unspecific and overlapping phenotypes. Multiple lines of investigation are required to achieve a definitive diagnosis, and even then, the identity of the disorder may remain unclear.1
Genetic testing can:
- Confirm the nature of your patient’s hereditary anemia, and determine whether it has more than one cause
- Define the right management plan, mitigate disease impact on quality of life, and open up treatment possibilities
- Inform genetic counseling discussions
Genetic testing with next-generation sequencing (NGS) offers the ability to test for multiple hereditary anemias with a single sample, rapidly and accurately.2 With the emergence of genetic testing with NGS, you have the opportunity to consolidate multiple lines of investigation to help get your patients the answers they need.
Testing is sponsored by Agios, who does not receive any identifiable information about patients.
Anemia ID is not intended to and should not interfere in any way with a health care professional’s or patient’s independent judgment and freedom of choice in the treatment options for these diseases. Health care professionals and patients should always consider the full range of treatment options and select those most appropriate for the individual patient.
*Genetic testing alone cannot provide a definitive diagnosis.
1. Russo R, Andolfo I, Manna F, et al. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Am J Hematol. 2018;93(5):672-682.
2. Roy N, Wilson E, Henderson S, et al. A novel 33-gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. Br J Haematol. 2016;75:318-330.