Anemia ID

Discover more about your patients’ hereditary anemias

To help reach a diagnosis, free genetic testing is available through Revvity Omics for your patients with suspected hereditary anemias.

Refer a patient for
genetic testing

For information about genetic testing, call Revvity Omics at 1-866-354-2910.

ORDER A TESTING KIT
The Anemia ID® genetic testing panel is available through Agios and Revvity Omics

As an alternative to genetic counseling, free collection kits can still be requested today:

One

Place your order by filling out the collection kit request form

Two

Your kit will arrive within 3 business days

Three

Collect patient sample(s) and return as directed

Four

Expect results in approximately 21 business days; genetic counseling information will also be made available to you

Perform next-generation sequencing (NGS) testing for Coombs-negative patients when you have excluded hemoglobinopathies and the blood smear is not definitive or available.
Order your genetic testing kit
GENETIC COUNSELING
What to expect

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.
Once your patient is registered and has an appointment scheduled, the counselor will:


One

Hold a pre-test consultation
Collect medical and family histories and discuss the underlying genetics of anemia

Two

Facilitate genetic tests
Order tests and send sample collection kit to patient's home

Three

Post-test consultation
Review the patient’s results and explain the implications on personal and family health

Four

Summary report
You and your patient will receive a copy of all results and additional testing recommendations


For more information about genetic counseling, call InformedDNA at 1-888-778-0427.

Refer a patient for genetic
testing & counseling

GENES & DISORDERS
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 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 NGS panel.

Anemia ID Partners

Agios is a biopharmaceutical company that is fueled by connections. The Agios team is dedicated to developing therapies for genetically defined diseases and is researching a potential treatment for some hereditary anemias.

Revvity Omics is dedicated to helping their partners make smarter decisions, earlier diagnoses, more effective treatments, and scientific breakthroughs. The team strategically works with partners to enable earlier and more accurate insights supported by deep market knowledge and technical expertise.

InformedDNA is the country’s leading applied genomics solutions company, helping harness the full power of precision medicine. With the largest independent staff of board-certified genetics specialists in the US, InformedDNA ensures that health organizations have access to the highest quality, most current genomics insights to optimize clinical decisions. Our solutions, which cover evidence-based guideline development, patient experience management, and value management, have helped optimize the health benefits of more than 100 million covered lives and have navigated hundreds of thousands of people to the right treatments or clinical trials. For more information, visit www.InformedDNA.com.

Additional forms and resources

More helpful information and documents about sample submissions:

Anemia ID® is only available to residents of the United States. At no point does Agios receive any protected health information (PHI) as part of this program.

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 or InformedDNA. 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 Revvity Omics. Other laboratories may also offer genetic testing.

All genetic counseling services provided to patients through Anemia ID are paid for by Agios Pharmaceuticals. While Agios provides financial support for this program, all genetic counseling services are performed by InformedDNA. Agios receives contact information for healthcare professionals who request genetic counseling for their patients under this program and limited de-identified data.