Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae's pricing is per "(external) clinical area(clinical area)":/clinical-areas/ for initial order and "(external) re-requisition(Re-requisition)":/re-requisition/. 

The tests and genes on this page are organized into clinical areas. Tests in the Hereditary Cancer section and on the "(external) Hereditary Cancer":/physician/category/CAT000015/ page are in a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions. 

Hematology

SERPINC1

The Invitae Antithrombin III Deficiency Test analyzes the gene associated with antithrombin III deficiency. Antithrombin III deficiency is characterized by reduced plasma antithrombin (AT) activity on lab testing and increased risk for venous or arterial thrombosis and venous thromboembolism.

Invitae Antithrombin III Deficiency Test

ADAMTS13

DGKE

INF2

CD55

CD46

CD59

THBD

MMACHC

The Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel analyzes genes which are associated with thrombotic microangiopathies, including atypical hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. These conditions are characterized by hemolytic anemia, thrombocytopenia, and kidney damage which may progress to kidney failure.

Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel

FANCI

SLX4

EFL1

NOP10

ELANE

GATA1

POT1

RUNX1

CD40LG

GATA2

FANCE

G6PC

RPL15

WRAP53

FANCG

STK4

RAB27A

FANCC

RPL26

FANCL

TERC

RPL5

RPS26

CEBPE

SRP72

RECQL4

DKC1

TINF2

RPL35A

FANCD2

FANCB

RPS19

RPS29

RTEL1

LYST

RPS7

PARN

TP53

TERT

CD40

PALB2

RPS10

FANCA

CXCR4

RPL11

BRCA2

RPS24

USB1

RBM8A

CLPB

ADA2

VPS45

SLC37A4

G6PC3

GFI1

SRP54

STN1

TIMM50

SAMD9L

SMARCD2

UBE2T

MECOM

CSF3R

TCN2

ABCB7

AP3B1

RMRP

VPS13B

HAX1

SAMD9

HTRA2

ERCC6L2

DNAJC21

JAGN1

FANCF

BRIP1

NHP2

ERCC4

MYSM1

ALAS2

CTC1

DDX41

Analyzes genes that are associated with bone marrow failure, a condition in which the body is unable to produce enough healthy blood cells.

Invitae Bone Marrow Failure Syndromes Panel

LIG4

RAD51

TNFSF12

XRCC2

RPL31

RFWD3

KDM1A

RPL18

BRCA1

RPL9

RAD51C

RPL19

MBD4

HYOU1

NAF1

RPL23

RPS15A

RPL35

RPS28

LAMTOR2

SBF2

ZCCHC8

RPS27

TSR2

MAD2L2

RPL27

FANCM

Add-on Preliminary-evidence Genes for Bone Marrow Failure

KLF1

C15orf41

SEC23B

CDAN1

KIF23

LPIN2

The Invitae Congenital Dyserythropoietic Anemia (CDA) Panel analyzes genes that are associated with congenital dyserythropoietic anemia, sideroblastic anemia, GATA1-related cytopenia, and Majeed syndrome. These conditions are characterized by ineffective erythropoiesis and morphological abnormalities of erythroblasts which leads to anemia of variable severity.

Invitae Congenital Dyserythropoietic Anemia (CDA) Panel

Analyzes genes that are associated with Diamond-Blackfan anemia.

Invitae Diamond-Blackfan Anemia Panel

Add-on Preliminary-evidence Genes for Diamond-Blackfan Anemia

EGLN1

BPGM

EPOR

EPAS1

The Invitae Familial Erythrocytosis Panel analyzes genes that are associated with familial erythrocytosis (also known as familial polycythemia). Familial erythrocytosis is characterized by an increased number of red blood cells that can lead to symptoms including headaches, dizziness, nosebleeds, shortness of breath, and abnormal blood clots.

Invitae Familial Erythrocytosis Panel

JAK2

THPO

The Invitae Familial Essential Thrombocythemia Panel analyzes genes that are associated with an inherited predisposition to developing essential thrombocythemia (also known as essential thrombocytosis). This condition is characterized by excessive platelet production, bleeding or thrombotic episodes, bone marrow fibrosis, and/or progressive anemia. Approximately 90% of essential thrombocythemia is caused by somatically acquired driver mutations in the JAK2, CALR, or MPL genes. In contrast, familial essential thrombocythemia (caused by inherited germline variants) is a rare clinical disorder. This panel is intended for germline variant detection only and is not validated for the detection of somatic variants.

Invitae Familial Essential Thrombocythemia Panel

Analyzes genes that are associated with Fanconi anemia, a condition with progressive bone marrow failure, physical abnormalities, and increased risk of malignancy.

Invitae Fanconi Anemia Panel

Add-on Preliminary-evidence Genes for Fanconi Anemia

SLC40A1

FTH1

HAMP

TFR2

The Invitae Hereditary Hemochromatosis Panel analyzes genes associated with hereditary hemochromatosis. Hereditary hemochromatosis is characterized by the accumulation of iron within the body.

Invitae Hereditary Hemochromatosis Panel

PGK1

EPB41

KCNN4

PFKM

G6PD

SLC4A1

EPB42

PKLR

RHAG

ALDOA

ABCG8

NT5C3A

ABCG5

ANK1

SPTA1

SPTB

HMOX1

CYB5R3

TPI1

SLC2A1

PIEZO1

COL4A1

GYPC

GCLC

The Invitae Hereditary Hemolytic Anemia Panel analyzes genes that are associated with congenital dyserythropoietic anemia, red blood cell enzymopathies, red blood cell membrane disorders, complement mediated hemolytic anemia, erythrocytosis, methemoglobinemia, and heme oxygenase deficiency. These conditions are characterized by anemia, abnormal red blood cell shape or quantity, jaundice, hematuria, iron overload, and in some cases lymphadenopathy, hepatosplenomegaly, and gallstones.

Invitae Hereditary Hemolytic Anemia Panel

IKZF1

MSH6

FCHO1

CASP8

IL2RB

DOCK8

STAT3

MSH2

RHOH

PIK3CD

MLH1

CARD11

CTLA4

CTPS1

FADD

MAGT1

PRKCD

CD27

Analyzes genes that are associated with a hereditary lymphoma susceptibility, a cancer of the lymphatic system.

Invitae Hereditary Lymphoma Panel