AnemiaID

Identifying the underlying cause of your patient’s chronic anemia can make a big difference to your patient’s life. That’s why Agios Pharmaceuticals has partnered with Revvity Omics to offer Anemia ID: a free genetic testing program. Anemia ID provides a next-generation sequencing (NGS) panel for a wide range of rare hereditary anemias.

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 variants 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.
  • Help 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.

*Genetic testing alone cannot provide a definitive diagnosis.

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 Revvity Omics. Agios receives limited de-identified aggregate data generated under this program.

Anemia ID is sponsored by Agios in partnership with Revvity Omics. Other laboratories may also offer genetic testing.  

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.

Sample collection instructions
AnemiaID

NY State Law

New York State Public Health Law and Regulations require that samples that are collected from patients within New York State be tested by a clinical laboratory that holds proper New York licensing. Due to the rarity of many genetic conditions, laboratories may not hold proper licensing for all testing options available. However, there can be justification for requesting laboratory testing from a facility that does not hold the specific disease testing permits.

For providers in New York, please call 866-354-2910 or email Genomics@revvity.com for sample submission instructions.

NY State Approval Status – Anemia ID

Test Code Test Name NYS Approved?
AGS001 AnemiaID Hereditary Anemia Panel Yes

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.

Congenital dyserythropoietic anemias

Disorder Gene
Congenital dyserythropoietic anemia (CDA) C15ORF4, CDAN1, SEC23B, KIF23
GATA1-related thrombocytopenia GATA1
Majeed syndrome LPIN2
Sideroblastic anemia ALAS2

 

Diamond-Blackfan anemia

Genes

  • RPL5, RPS7, RPS19
  • RPL11, RPS10, RPS24
  • RPL35A, RPS26

Enzymopathies (RBC enzyme disorders)

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

 

Membranopathies (RBC membrane disorders)

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

 

Hyperbilirubinemias

Disorder Gene
Gilbert syndrome UGT1A1, UGT1A6, UGT1A7
Hyperbilirubinemia, rotor type SLCO1B1, SLCO1B3

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.

    FAQs
  • What is genetic testing and how can it help me or my child?

    Ans: 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.

  • How can I order this testing?

    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.

  • What if I do not live in the US and want testing through the Anemia ID?

    The Anemia ID is only available to healthcare providers in the US.

  • How do I find a healthcare provider to order testing?

    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.

  • How do I send a sample?

    Please ask your healthcare provider to order your sample collection pack for you. The sample may include saliva or blood based on the testing being requested. Sample type requirements can be determined by reviewing specimen requirements.

  • Can I send in a sample without paperwork or paperwork without a sample?

    We prefer those samples and paperwork always be sent in together within the same shipping container. Shipping the sample and paperwork within the same shipping container ensures there are no delays when receiving and testing your sample.

  • What paperwork is required to submit my sample? Who completes this information?

    The paperwork required for sample testing includes a test requisition form and informed consent form. The test requisition form will be completed by your healthcare provider and includes your information, test(s) requested, clinically relevant information, and your healthcare provider’s signature. The informed consent form should be reviewed and signed off by the individual whose sample will be collected for testing. In the case of a minor, the patient’s parent or authorized guardian must sign on behalf of the minor being tested.

  • How will I receive my results?

    A report will be sent to your provider via fax or securely encrypted email as soon as it is ready. You should have a plan with your provider and/or a genetic counselor to review your results when they are ready. The National Society of Genetic Counselors (NSGC) may be able to help you identify a genetic counselor.

  • Why haven't I received my results yet?

    There are several factors impacting the delivery of results. If you have not received a call from your provider or specialist, please contact them directly for an update on the status of your sample.

  • What if I want to have my results shared with a specialist beyond the healthcare provider requesting the information?

    The test requisition form allows for additional providers to receive a copy of the test results. When the test(s) is being ordered, ask your healthcare provider to include the additional provider’s information in the “Additional Provider/Genetic Counselor” section of the test requisition form.

  • I have an issue with my results. Who should I contact?

    For assistance interpreting your results, please contact your physician who ordered the testing or seek out a genetic counselor in your area. Revvity Omics cannot discuss results with patients directly, but you may urge your physician to contact our customer service line with any issues. The National Society of Genetic Counselors (NSGC) may be able to help you identify a genetic counselor.

  • Who is a healthcare provider?

    A healthcare provider is a legally authorized individual who can order testing (also referred to as a “provider”). Depending on local laws, this can be a medical doctor such as a hematologist, a nurse practitioner, a certified genetic counselor, or a physician’s assistant.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals. 

Revisions: PKD-US-0480v2