Anemia Identified
FOR US HEALTH
PROFESSIONALS
Anemia Identified
FOR US HEALTH
PROFESSIONALS
FOR US HEALTH
PROFESSIONALS
FOR US HEALTH
PROFESSIONALS
To help physicians reach a diagnosis for their patients, Agios, in partnership with PerkinElmer Genomics, is sponsoring free genetic testing for patients with suspected hereditary anemias.
To request your kit:
Place your order by filling out the form below
Your kit will arrive within 3 business days
Collect patient sample(s) and return as directed
Expect results in approximately 21 business days; genetic counseling information will also be made available to you
This program is only available to residents of the United States.
All testing provided to patients through Anemia ID is paid for by Agios Pharmaceuticals. While Agios provides financial support for this program, all tests and services are performed by PerkinElmer Genomics. Agios receives contact information for healthcare professionals who submit tests under this program and limited de-identified aggregate data.
Anemia ID is sponsored by Agios in partnership with PerkinElmer Genomics. Other laboratories may also offer genetic testing.
| Disorder | Gene |
|---|---|
| Congenital dyserythropoietic anemia (CDA) | C15ORF41, CDAN1, SEC23B, KIF23 |
| GATA1-related thrombocytopenia | GATA1 |
| Majeed syndrome | LPIN2 |
| Sideroblastic anemia | ALAS2 |
| Gene | ||
|---|---|---|
| RPL5 | RPS7 | RPS19 |
| RPL11 | RPS10 | RPS24 |
| RPL35A | RPS26 | |
| Disorder | Gene |
|---|---|
| Adenylate kinase deficiency | AK1 |
| Aldolase A deficiency | ALDOA |
| G6PD deficiency | G6PD |
| Gamma-glutamylcysteine synthetase deficiency | GCLC |
| Glucose phosphate isomerase deficiency | GPI |
| Glutathione peroxidase deficiency | GPX1 |
| Glutathione reductase deficiency | GSR |
| Glutathione synthetase deficiency | GSS |
| Glycogen storage disease VII | PFKM |
| Hexokinase deficiency | HK1 |
| Methemoglobinemia due to deficiency of methemoglobin reductase | CYB5R3 |
| Phosphoglycerate kinase 1 deficiency | PGK1 |
| Pyruvate kinase deficiency | PKLR |
| Triosephosphate isomerase deficiency | TPI1 |
| Uridine 5-prime monophosphate hydrolase deficiency | NT5C3A |
| Disorder | Gene |
|---|---|
| Congenital X-linked hemolytic anemia | ATP11C |
| GLUT1 deficiency | SLC2A1 |
| Hereditary elliptocytosis | EPB41, GYPC, SPTA1, SPTB |
| Hereditary pyropoikilocytosis | SPTA1, SPTB |
| Hereditary spherocytosis | ANK1, EPB42, SLC4A1, SPTA1, SPTB |
| Hereditary stomatocytosis | ABCG5, ABCG8, KCNN4, PIEZO1, RHAG, SLC2A1, SLC4A1 |
| McLeod neuroacanthocytosis syndrome | XK |
| Ovalocytosis | SLC4A1 |
| Porencephaly | COL4A1 |
| Disorder | Gene |
|---|---|
| Gilbert syndrome | UGT1A1, UGT1A6, UGT1A7 |
| Hyperbilirubinemia, rotor type | SLCO1B1, SLCO1B3 |
You can also download a full list of the genes and disorders included in the Anemia ID next-generation sequencing (NGS) panel.
ORDER NOW
To order your kit, fill out the form below or call PerkinElmer Genomics customer service at 1-866-354-2910.
If you are a physician practicing in New York State, testing will be provided by the NY State–certified lab PreventionGenetics to comply with New York State Public Health Law and regulations. Details about the PreventionGenetics panel, including methodology and genes analyzed, will be included with test results. Note: Samples must be submitted with the NY State Healthcare Provider Statement.
Visit PerkinElmer Genomics and PreventionGenetics to view their respective privacy policies.
*Required fields.
To have a saliva kit shipped directly to your patient, please use the order form found on the site of our partner, PerkinElmer Genomics. Select "Singleton Saliva Swabs" from the drop-down menu.
If you are a patient who would like to submit a sample for testing, please talk to your doctor. All samples must be accompanied by a test request form and other medical documentation signed and submitted by your treating physician.
ORDER CONFIRMATION
Your kit should arrive within 3 business days. The kit includes:
A confirmation email has been sent to the email provided.
This form must be completed fully and included with the sample when you return it for testing. A paper copy of the form is also included with the kit.
WHY GENETIC TESTING
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:
Next-generation sequencing (NGS) offers the ability to test rapidly and accurately for multiple hereditary anemias with a single sample.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.
*Genetic testing alone cannot provide a definitive diagnosis.
WHY GENETIC COUNSELING
A definitive diagnosis makes genetic counseling possible, enabling your patient to recognize the risk their disease poses to their health and the management strategies now open to them.
Genetic counseling can help your patient to:
Anemia ID does not pay for or provide genetic counseling to patients. Your patients may be able to receive personalized help through the National Society of Genetic Counselors.
Additional information sources that may be helpful to your patients.
References:
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.
This program is only available to residents of the United States.
All testing provided to patients through Anemia ID is paid for by Agios Pharmaceuticals. While Agios provides financial support for this program, all tests and services are performed by PerkinElmer Genomics. Agios receives contact information for healthcare professionals who submit tests under this program and limited de-identified aggregate data.
Anemia ID is sponsored by Agios in partnership with PerkinElmer Genomics. Other laboratories may also offer genetic testing.
