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.
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.
NY State Law
NY State Approval Status – Anemia ID
| Test Code | Test Name | NYS Approved? |
| AGS001 | AnemiaID Hereditary Anemia Panel | No |
Genes and disorders included in the Anemia ID next-generation sequencing genetic panel
The ordering process may vary slightly depending on the type of testing that is requested. Please select below the type of test that you are interested in ordering for specific detailed instructions.
| Disorder | Gene |
| Congenital dyserythropoietic anemia (CDA) | C15ORF4, CDAN1, SEC23B, KIF23 |
| GATA1-related thrombocytopenia | GATA1 |
| Majeed syndrome | LPIN2 |
| Sideroblastic anemia | ALAS2 |
| 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 |
Ordering Instructions
Select the correct test for your patient and fill out the Anemia ID Requisition Form.
- Please make sure that all sections are completed and that the patient has signed the informed consent form.
- For providers from New York State, please click here for additional ordering information.
Agios is partnering with InformedDNA to provide free genetic counseling to your patients with suspected hereditary anemias.
- InformedDNA is a tele-health genetic counseling provider. Their genetic counselors have expertise in hereditary anemias and hold appointments with patients over the phone. After you refer a patient to InformedDNA, the genetic counselors will handle the process every step of the way.
- Click here to refer a patient for genetic counseling and testing.
1. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us and we can have one sent to your office.
Ensure that the patient sample is labeled with the patient name and date of birth.
Please note that the Anemia ID next-generation sequencing panel requires either a saliva or whole blood sample. Please see the step-by-step instructions.
2. Samples may be submitted without a collection kit by following the guidelines for specimen requirements and completed the requisition form. Package the patient sample, informed consent, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
Since a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
As Anemia ID is a free testing program, remind billing staff that patients should not be charged for testing costs.
- Once PerkinElmer receives the sample, you will receive a phone call to report abnormal findings, with a written report to follow within the established turnaround time for the ordered test.
FAQs
Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
If a healthcare provider wants to order a testing kit directly to their practice, they can complete the test kit order form on AnemiaID.com. If a provider has any questions about ordering testing, the provider may call the customer service line at 866-354-2910.
Your healthcare provider should be your first point of contact to oversee your symptoms and inherent health. If you’ve been diagnosed with chronic anemia, you may want to ask your primary care physician for a referral to a hematologist (a doctor that specializes in blood disorders). The National Society of Genetic Counselors (NSGC) may be able to help you identify a genetic counselor.
Additionally, Agios is partnering with InformedDNA to provide free genetic counseling to patients with suspected hereditary anemias. Your healthcare provider can click here to refer a patient for genetic counseling and testing.
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.
PKD-US-0480v2