Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.
The tests and genes on this page are organized into clinical areas. Tests in the Hereditary Cancer section and on the Hereditary Cancer 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.
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The BRCA2 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793) and autosomal recessive Fanconi anemia, type D1 (FA-D1) (MedGen UID: 325420).
The BRIP1 gene is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer in individuals who carry a single pathogenic BRIP1 variant (PMID: 17033622, 21964575, 26315354). Additionally, the BRIP1 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 323015).
The CTC1 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 78580).
The DKC1 gene is associated with X-linked dyskeratosis congenita (MedGen UID: 216941).
The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).
The ERCC4 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 815318), xeroderma pigmentosa (MedGen UID: 120612), and Cockayne syndrome (MedGen UID: 40363).
The F2 gene is associated with prothrombin-related thrombophilia (MedGen UID: 98306) and autosomal recessive prothrombin deficiency (MedGen UID: 5714).
The specific genetic change in the F5 gene found in this individual is associated with a condition called factor V Leiden thrombophilia.
The F9 gene is associated with X-linked recessive hemophilia B (MedGen UID: 945) and X-linked recessive factor IX thrombophilia (MedGen UID: 411730).
The FANCA gene is associated with autosomal recessive Fanconi anemia type A (FA-A) (MedGen UID: 483333). Additionally, there is preliminary evidence that the FANCA gene is associated with an increased risk for autosomal dominant prostate cancer in individuals who carry a single pathogenic FANCA variant (PMID: 28864460, 27701467, 26181256).
The FANCB gene is associated with X-linked Fanconi anemia type B (FA-B) (MedGen UID: 336901).
The FANCC gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 483324). Additionally, there is preliminary evidence that the FANCC gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer in individuals who carry a single pathogenic FANCC variant (PMID: 23028338, 12750283, 15695377).
The FANCD2 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 463627).
The FANCE gene is associated with autosomal recessive Fanconi anemia, type E (FA-E) (MedGen UID: 463628).
The FANCF gene is associated with autosomal recessive Fanconi anemia, type F (FA-F) (MedGen UID: 448251).
The FANCG gene is associated with autosomal recessive Fanconi anemia, type G (FA-G) (MedGen UID: 433393).
The FANCI gene is associated with autosomal recessive Fanconi anemia, type I (FA-I) (MedGen UID: 323016).
The FANCL gene is associated with autosomal recessive Fanconi anemia, type L (FA-L) (MedGen UID: 433302).
The FANCM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (PMID: 16116422, 19423727, 21681190) and autosomal dominant predisposition to breast cancer (PMID: 23409019, 25288723).
The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).
The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660), including Emberger syndrome (MedGen UID: 481294).
The HAMP gene is associated with autosomal recessive hemochromatosis (type 2B) (aka juvenile hemochromatosis) (MedGen UID: 356040).
The HFE gene is associated with autosomal recessive hereditary hemochromatosis (HFE-HH) (MedGen UID: 140272).
The HJV gene (formerly known as HFE2) is associated with autosomal recessive hemochromatosis type 2A (HFE2A), also known as juvenile hemochromatosis (MedGen UID: 356321).
The ITGA2B gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736).
The ITGB3 gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736).
The MPL gene is associated with autosomal dominant essential thrombocythemia (MedGen UID: 11797) and autosomal recessive congenital amegakaryocytic thrombocytopenia (MedGen UID: 272171).
The MTHFR gene is associated with autosomal recessive severe MTHFR deficiency (MedGen UID: 383829).
The NHP2 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 462791).
The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).
The PALB2 gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer, and possibly ovarian cancer, in individuals who carry a single pathogenic PALB2 variant (PMID: 25099575, 17200668, 18628482). Additionally, the PALB2 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 372133).
The PROC gene is associated with autosomal dominant and recessive protein C deficiency (MedGen UID: 436138 & 394120).
The PROS1 gene is associated with autosomal dominant and recessive protein S deficiency (MedGen UID: 436762 & 482722).
The RAD51C gene is associated with autosomal dominant susceptibility to ovarian cancer and possibly breast cancer (PMID: 20400964, 22451500, 22725699, 21616938).
The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).
The RPL26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 766956).
The RPL35A gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 382705).
The RPL5 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 75558).
The RPS10 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412874).
The RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 266045).
The RPS24 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 387892).
The RPS26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412873).
The RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).
The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).
The SERPINC1 gene is associated with autosomal dominant and recessive antithrombin III deficiency (MedGen UID: 75781).
The SLC40A1 gene is associated with autosomal dominant ferroportin disease (aka hemochromatosis type 4 (HFE4)) (MedGen UID: 340044).
The SLX4 gene is associated with autosomal recessive Fanconi anemia, type P (FA-P) (MedGen UID: 450103).
The TERC gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 338831).
The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793), and autosomal dominant idiopathic pulmonary fibrosis (IPF) (MedGen UID: 321462).
The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).
The TINF2 gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 462795).
The VHL gene is associated with autosomal dominant von Hippel-Lindau (VHL) syndrome (MedGen UID: 42458), and autosomal recessive familial erythrocytosis, type 2 (MedGen UID: 332974).
The WAS gene is associated with X-linked recessive Wiskott-Aldrich syndrome (MedGen UID: 21921), severe congenital neutropenia (MedGen UID: 335314) and thrombocytopenia (MedGen UID: 326416), collectively known as WAS-related disorders.
The XRCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to breast cancer (PMID: 22464251, 25452441) and autosomal recessive Fanconi anemia (PMID: 22232082).
