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Hematology

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.

 

Clinical Area: Hereditary Cancer

up to 13 genes

Invitae Diamond-Blackfan Anemia Panel

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Genetic testing for up to 13 genes associated with Diamond-Blackfan anemia (DBA)—a condition characterized by anemia, congenital malformations, growth restriction and an increased risk for leukemia and sarcoma.

GENES TESTED:

Primary Panel:
GATA1 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

Panel details and technical assay limitations

Add-on Preliminary-evidence Genes for Diamond-Blackfan Anemia:
 RPL19 RPS29

Panel details and technical assay limitations

Genes with preliminary evidence of an association with Diamond-Blackfan anemia are available to add on to the primary panel. Adding on preliminary-evidence genes can increase the number of variants of uncertain significance that are identified. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 12 genes

Invitae Dyskeratosis Congenita Panel

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Genetic testing for up to 12 genes associated with dyskeratosis congenita (DC)—a condition characterized by abnormal skin pigmentation, nail dystrophy, oral leukoplakia, and increased risk of progressive bone marrow failure and malignancies.

GENES TESTED:

Primary Panel:
CTC1 DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2

Panel details and technical assay limitations

Add-on Preliminary-evidence Genes for Dyskeratosis Congenita:
 ACD USB1 WRAP53

Panel details and technical assay limitations

Genes with preliminary evidence of association with dyskeratosis congenita are available to add on to the primary panel. Adding on preliminary-evidence genes can increase the number of variants of uncertain significance that are identified. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

39 genes

Invitae Bone Marrow Failure Syndromes Panel

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Genetic testing for 39 genes that are associated with inherited bone marrow failure syndromes (IBMFS).

GENES TESTED:

BRCA2 BRIP1 CTC1 DKC1 ELANE ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GATA1 GATA2 MPL NHP2 NOP10 PALB2 RAD51C RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1 SLX4 TERC TERT TINF2 WAS XRCC2

Panel details and technical assay limitations
1 gene

Invitae Congenital Amegakaryocytic Thrombocytopenia Test

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Genetic testing for the gene MPL, which is associated with congenital amegakaryocytic thrombocytopenia (CAMT), a bone marrow failure syndrome and risk for aplastic anemia and leukemia.

GENES TESTED:

MPL

Panel details and technical assay limitations
1 gene

Invitae ELANE-Related Neutropenia Test

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Genetic testing for the ELANE gene, associated with ELANE-related neutropenia, which includes severe congenital neutropenia and cyclic neutropenia.

GENES TESTED:

ELANE

Panel details and technical assay limitations
17 genes

Invitae Fanconi Anemia Panel

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Genetic testing for 17 genes associated with Fanconi anemia (FA), a condition characterized by progressive bone marrow failure, physical abnormalities, and increased risk of malignancy.

GENES TESTED:

BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 RAD51C SLX4 XRCC2

Panel details and technical assay limitations
1 gene

Invitae GATA1-Related X-Linked Cytopenia Test

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Genetic testing for the GATA1 gene, which is associated with X-linked red blood cell and platelet abnormalities manifesting as anemia, thrombocytopenia, epistaxis, hemorrhage, or fetal hydrops.

GENES TESTED:

GATA1

Panel details and technical assay limitations
1 gene

Invitae GATA2 Deficiency Test

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Genetic testing for the gene GATA2, which is associated with autosomal dominant familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) and other non-hematological symptoms, including immunodeficiency and lymphedema.

GENES TESTED:

GATA2

Panel details and technical assay limitations
1 gene

Invitae WAS-Related Disorders Test

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Genetic testing for the WAS gene, which is associated with hematopoietic disorders including Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and X-linked congenital neutropenia.

GENES TESTED:

WAS

Panel details and technical assay limitations

Clinical Area: Non-malignant Hematology

5 genes

Invitae Hereditary Hemochromatosis Panel

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Genetic testing for 5 genes associated with hereditary hemochromatosis (HH), a genetic disorder that causes increased iron absorption and can lead to iron overload.

GENES TESTED:

HAMP HFE HJV SLC40A1 TFR2

Panel details and technical assay limitations
up to 7 genes

Invitae Hereditary Thrombophilia Panel

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Genetic testing for up to 7 genes associated with hereditary thrombophilia, a genetic disorder that increases risk for developing thromboembolism.

GENES TESTED:

Primary Panel:
F2 F5 PROC PROS1 SERPINC1

Panel details and technical assay limitations

Add-on F9 Gene:
 F9

Panel details and technical assay limitations

Clinicians may also wish to include the gene F9 associated with factor IX thrombophilia for no additional charge.

Add-on MPL Gene:
 MPL

Panel details and technical assay limitations

Clinicians may also wish to include the gene MPL, associated with familial essential thrombocythemia, for no additional charge.

1 gene

Invitae Antithrombin III Deficiency Test

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Genetic testing for SERPINC1, the gene associated with antithrombin III deficiency, a condition causing risk of deep venous thrombosis and pulmonary embolism.

GENES TESTED:

SERPINC1

Panel details and technical assay limitations
1 gene

Invitae Protein C Deficiency Test

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Genetic testing for PROC, the gene associated with protein C deficiency, a condition that increases risk of deep venous thrombosis and pulmonary embolism.

GENES TESTED:

PROC

Panel details and technical assay limitations
1 gene

Invitae Protein S Deficiency Test

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Genetic testing for PROS1, the gene associated with protein S deficiency, a condition that increases risk of deep venous thrombosis, superficial thrombophlebitis, and pulmonary embolism.

GENES TESTED:

PROS1

Panel details and technical assay limitations

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Hereditary Cancer
  • Clinical Area: Non-malignant Hematology
Gene
A
ACD
Synonym(s): PIP1; POT1- AND TIN2-ORGANIZING PROTEIN; POT1-INTERACTING PROTEIN 1; PTOP; TELOMERE PROTEIN TPP1; TIN2-INTERACTING PROTEIN 1; TINT1; TPP1

The ACD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and recessive dyskeratosis congenita (DC) (PMID: 25233904, 25205116).

B
BRCA2
Synonym(s): FACD; FANCD; FANCD1

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).

BRIP1

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).

C
CTC1
Synonym(s): AAF-132; AAF132; C17orf68; CRMCC; tmp494178

The CTC1 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 78580).

D
DKC1
Synonym(s): CBF5; DKC; DKCX; NAP57; NOLA4; XAP101

The DKC1 gene is associated with X-linked dyskeratosis congenita (MedGen UID: 216941).

E
ELANE
Synonym(s): ELA2; GE; HLE; HNE; NE; PMN-E; SCN1

The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).

ERCC4
Synonym(s): XPF

The ERCC4 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 815318), xeroderma pigmentosa (MedGen UID: 120612), and Cockayne syndrome (MedGen UID: 40363).

F
F2

The F2 gene is associated with prothrombin-related thrombophilia (MedGen UID: 98306) and autosomal recessive prothrombin deficiency (MedGen UID: 5714).

F5

The specific genetic change in the F5 gene found in this individual is associated with a condition called factor V Leiden thrombophilia.

F9

The F9 gene is associated with X-linked recessive hemophilia B (MedGen UID: 945) and X-linked recessive factor IX thrombophilia (MedGen UID: 411730).

FANCA
Synonym(s): FACA; FANCH

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).

FANCB

The FANCB gene is associated with X-linked Fanconi anemia type B (FA-B) (MedGen UID: 336901).

FANCC
Synonym(s): FACC

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).

FANCD2
Synonym(s): FACD; FANCD

The FANCD2 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 463627).

FANCE
Synonym(s): FACE

The FANCE gene is associated with autosomal recessive Fanconi anemia, type E (FA-E) (MedGen UID: 463628).

FANCF

The FANCF gene is associated with autosomal recessive Fanconi anemia, type F (FA-F) (MedGen UID: 448251).

FANCG
Synonym(s): XRCC9

The FANCG gene is associated with autosomal recessive Fanconi anemia, type G (FA-G) (MedGen UID: 433393).

FANCI
Synonym(s): KIAA1794

The FANCI gene is associated with autosomal recessive Fanconi anemia, type I (FA-I) (MedGen UID: 323016).

FANCL
Synonym(s): PHF9

The FANCL gene is associated with autosomal recessive Fanconi anemia, type L (FA-L) (MedGen UID: 433302).

FANCM
Synonym(s): KIAA1596

The FANCM gene is associated with an autosomal recessive condition characterized by an increased risk for malignancy and infertility (PMID: 30075111, 29231814, 28837162, 29895858, 28837157). Additionally, there is preliminary evidence that FANCM is associated with autosomal dominant predisposition to breast cancer (PMID: 23409019, 25288723) and autosomal recessive Fanconi anemia (PMID: 16116422, 19423727, 21681190).

G
GATA1
Synonym(s): GF1

The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).

GATA2
Synonym(s): DCML; IMD21; MONOMAC; NFE1B

The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660), including Emberger syndrome (MedGen UID: 481294).

H
HAMP

The HAMP gene is associated with autosomal recessive hemochromatosis (type 2B) (aka juvenile hemochromatosis) (MedGen UID: 356040).

HFE

The HFE gene is associated with autosomal recessive hereditary hemochromatosis (HFE-HH) (MedGen UID: 140272).

HJV

The HJV gene (formerly known as HFE2) is associated with autosomal recessive hemochromatosis type 2A (HFE2A), also known as juvenile hemochromatosis (MedGen UID: 356321).

I
ITGA2B
Synonym(s): GP2B

The ITGA2B gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736).

ITGB3
Synonym(s): GP3A

The ITGB3 gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736).

J
K
L
M
MPL

The MPL gene is associated with autosomal dominant essential thrombocythemia (MedGen UID: 11797) and autosomal recessive congenital amegakaryocytic thrombocytopenia (MedGen UID: 272171).

MTHFR

The MTHFR gene is associated with autosomal recessive severe MTHFR deficiency (MedGen UID: 383829).

N
NHP2
Synonym(s): DKCB2; NHP2P; NOLA2

The NHP2 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 462791).

NOP10
Synonym(s): DKCB1; NOLA3; NOP10P

The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).

O
P
PALB2

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).

PARN
Synonym(s): DAN; DEADENYLATING NUCLEASE; DKCB6; PFBMFT4; POLY(A)-SPECIFIC RIBONUCLEASE

The PARN gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 905452), and autosomal dominant telomere-related pulmonary fibrosis (PMID: 25848748).

PROC

The PROC gene is associated with autosomal dominant and recessive protein C deficiency (MedGen UID: 436138 & 394120).

PROS1
Synonym(s): PROS

The PROS1 gene is associated with autosomal dominant and recessive protein S deficiency (MedGen UID: 436762 & 482722).

Q
R
RAD51C

The RAD51C gene is associated with autosomal dominant susceptibility to ovarian cancer and possibly breast cancer (PMID: 20400964, 22451500, 22725699, 21616938).

RPL11

The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).

RPL15

The RPL15 gene is associated with autosomal dominant Diamond-Blackfan anemia (PMID: 29599205, 23812780, 25042156).

RPL19

The RPL19 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 30503522, 22431104).

RPL26

The RPL26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 766956).

RPL35A

The RPL35A gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 382705).

RPL5

The RPL5 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 75558).

RPS10

The RPS10 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412874).

RPS19

The RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 266045).

RPS24

The RPS24 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 387892).

RPS26

The RPS26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412873).

RPS29

The RPS29 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 24829207).

RPS7

The RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).

RTEL1
Synonym(s): C20orf41; DKCA4; DKCB5; NHL; PFBMFT3; RTEL

The RTEL1 gene is associated with autosomal recessive dyskeratosis congenita (DKC) (MedGen UID: 767570) and autosomal dominant pulmonary fibrosis (MedGen UID: 901644).

RUNX1
Synonym(s): AML1; AML1-EVI-1; AMLCR1; CBF2alpha; CBFA2; EVI-1; PEBP2aB; PEBP2alpha

The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).

S
SERPINC1
Synonym(s): AT3

The SERPINC1 gene is associated with autosomal dominant and recessive antithrombin III deficiency (MedGen UID: 75781).

SLC40A1
Synonym(s): SLC11A3

The SLC40A1 gene is associated with autosomal dominant ferroportin disease (aka hemochromatosis type 4 (HFE4)) (MedGen UID: 340044).

SLX4
Synonym(s): BTBD12

The SLX4 gene is associated with autosomal recessive Fanconi anemia, type P (FA-P) (MedGen UID: 450103).

T
TERC
Synonym(s): DKCA1; hTR; PFBMFT2; SCARNA19; TR; TRC3

The TERC gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 338831).

TERT
Synonym(s): CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT; PFBMFT1; TCS1; TP2; TRT

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).

TFR2

The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).

TINF2
Synonym(s): DKCA3; TIN2

The TINF2 gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 462795).

U
USB1

The USB1 gene is associated with autosomal recessive poikiloderma with neutropenia (PN) (MedGen UID: 388129). In addition, there is preliminary evidence of an association with autosomal recessive dyskeratosis congenita (PMID: 20817924, 25044170).

V
VHL
Synonym(s): HRCA1; pVHL; RCA1; VHL1

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).

W
WAS
Synonym(s): IMD2; SCNX; THC; THC1; WASP; WASPA

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.

WRAP53

The WRAP53 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dyskeratosis congenita due to WRAP53 deficiency (MedGen UID: 462792).

X
XRCC2

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).

Y
Z