For information about genetic counseling, call InformedDNA at 1-888-778-0427.
InformedDNA is a tele-health genetic counseling provider. Their genetic counselors have expertise in hereditary anemias and hold appointments with patients over the phone.
Hold a pre-test consultation
Collect medical and family histories and discuss the underlying genetics of anemia
Order tests and send sample collection kit to patient's home
Review the patient’s results and explain the implications on personal and family health
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.
Place your order by filling out the collection kit request form
Your kit will arrive within 3 business days
Collect patient sample(s) and return as directed
Expect results in approximately 21 business days; genetic counseling information will also be made available to you
ORDER A GENETIC TESTING KIT
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, testing will be provided by the NY State–certified lab PreventionGenetics. Samples for testing must be submitted with their NY State Healthcare Provider Statement.
To have a saliva 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.
If you are a patient who would like to submit a sample for testing, please talk to your doctor. All samples must be accompanied by a test request form and other medical documentation signed and submitted by your treating physician.
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.
Congenital dyserythropoietic anemias
|Congenital dyserythropoietic anemia (CDA)||C15ORF41, CDAN1, SEC23B, KIF23|
Enzymopathies (RBC enzyme disorders)
|Adenylate kinase deficiency||AK1|
|Aldolase A deficiency||ALDOA|
|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|
|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)
|Congenital X-linked hemolytic anemia||ATP11C|
|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|
|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.
PARTNERS & RESOURCES
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.
PerkinElmer 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 resourcesMore helpful information and documents about sample submissions.
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 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 PerkinElmer Genomics. 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.