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 PerkinElmer Genomics 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.
 
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.
Please use the links below to see a full list of genes included in the panel, request a kit, or review our ordering instructions.

Anemia ID
panel

Request a kit

Ordering
instructions

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 or ordering providers.
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

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@perkinelmer.com for sample submission instructions.

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
Genes

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.

  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.

A healthcare provider is required to order any genetic and biochemical testing offered by the Anemia ID. If a provider has any questions about ordering testing, the provider may call the customer service line at 866-354-2910.

The Anemia ID is only available to healthcare providers in the US.
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.
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.
We prefer that 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.
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 will sign on behalf of the minor being tested.
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.
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.
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.
For assistance interpreting your results, please contact your physician who ordered the testing or seek out a genetic counselor in your area. PerkinElmer Genomics 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.
A healthcare provider is a legally authorized individual who can order testing (also referred to as a “provider”). This can be a medical doctor such as a hematologist, a nurse practitioner, a certified genetic counselor, or a physician’s assistant. We recommend seeking out a provider with genetic expertise or having a genetic counselor involved on your healthcare team.

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.

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