A free genetic test may reveal the cause of your patient’s hereditary anemia.

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-order

Place your order by filling out the form below

Kit-arrival

Your kit will arrive within 3 business days

Collect-specimen

Collect patient sample(s) and return as directed

Receive-results

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.

Genes and disorders included in the Anemia ID genetic test

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 GCLC
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
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.

Anemia ID collection kit request form

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, please call customer service, or email Genomics@perkinelmer.com, for sample submission instructions.

Visit PerkinElmer Genomics to view their privacy policy.

*Required fields.

To have a saliva testing 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.

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Thank you for your order

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.

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

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.

The more your patient knows, the more empowered they can be

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:

  • Understand reproductive risk, and the likelihood that any children could carry or inherit the disorder
  • Open up opportunities for clinical trial participation
  • Make the most of disease-state education and connect with others diagnosed with their condition

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.

Patient resources

Additional information sources that may be helpful to your patients.

  • National Society of Genetic Counselors
    nsgc.org
  • Online Mendelian Inheritance in Man®
    omim.org

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.