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

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

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

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
counseling & testing

ORDER A GENETIC TESTING KIT

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, testing will be provided by the NY State–certified lab PreventionGenetics. Samples for testing must be submitted with their NY State Healthcare Provider Statement.

Visit PerkinElmer Genomics and PreventionGenetics to view their respective privacy policies.

*Required fields.

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.

Congenital dyserythropoietic anemias

Disorder	Gene
Congenital dyserythropoietic anemia (CDA)	C15ORF41, CDAN1, SEC23B, KIF23
GATA1-related thrombocytopenia	GATA1
Majeed syndrome	LPIN2
Sideroblastic anemia	ALAS2

Diamond-Blackfan anemia

Gene
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

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 resources

Anemia ID Flashcards

Testing Requisition Form

NY Healthcare Provider Statement

Saliva Collection Requirements

Application for Results Portal Access

Genes & Disorders

Specimen Requirements

FAQ

Additional Labs

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.