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 NGS Panels for Genetic Testing in Hematology


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There are a number of hereditary diseases or syndromes that causes blood disorders. Many blood disorders are characterized by anemia. Different reasons for anemia are described such as nutritional disorders, chronic diseases, drug induction or genetic factors. 

Some example for anemia with hereditary background are Fanconi anemia (FA), sickle cell anemia, and thalassemia. Some genes that are associated with FA are FANCJ/BRIP1, FANCN/PALB2 and FANCI, for more information we recommend the Fanconi Anemia Mutation Database of the Rockefeller University.

Other important hereditary genetic blood disorders are hemophilia, thrombocytosis and thrombocytopenia. Hemophilia is characterized by genetic disorders in the clotting factors VIII and IX. It is supposed that about 1/3 of all hemophilia cases are not hereditary but caused by spontaneous mutation in one of their parents' gametes. Different genes are associated with the disorders in thrombocytes, these are for example the JAK2, CALR, MPL, THPO, and TET2 (source: Genetics Home Reference).

On this website different NGS gene panels are introduced for the diagnosis of certain hereditary blood disorders including anemia, thrombophilia and thrombasthenia.

For more information on the targeted genes please contact the corresponding NGS panel provider.

For general information on blood disorders we recommend the NIH U.S. National Library of Medicine website.


Hematology (see also Cardiology) 

Agammaglobulinemia panel

Targeted genes: BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1, SH2D1A

Source: Centogene

Aortic aneurysm, hereditary thoracic panel

Targeted genes: MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK, TGFB2, TGFB3

Source: Centogene

Congenital Sideroblastic Anemia Panel

Targeted genes: ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

Disorders:
Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD)
Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)
Pearson Syndrome
Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive
Sideroblastic Anemia
Sideroblastic Anemia with Spinocerebellar Ataxia
Sideroblastic Anemia, X-linked
Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)

Source: GeneDx

Diamond-Blackfan Anemia NGS Panel

Targeted Genes: GATA1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
Source: Fulgent Diagnostics

Diamond-Blackfan anemia panel

Targeted genes: RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
Source: Centogene

DIAMOND-BLACKFAN ANEMIA SEQUENCING PANEL

Targeted Genes
RPL11 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

Source: UCGS

Dolichoectasia panel

Targeted genes: COL4A1, COL4A2, GAA, MMP3, PKD1, PKD2, SLC2A10

Source: Centogene

Fanconi anemia

Targeted genes: BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4

Source: CGC Genetics

Fanconi Anemia NGS Panel

Targeted Genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4
Source: Fulgent Diagnostics

Fanconi anemia panel

Targeted genes: BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2

Source: Centogene

FANCONI ANEMIA SEQUENCING PANEL

Targeted Genes
BRCA2 BRIP1 ERCC4 FANCA FANCb FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL PALB2 RAD51C SLX4 XRCC2

Source: UCGS

Hereditary Hemolytic Anemia Sequencing

Hereditary Hemolytic Anemia Sequencing, 28 Genes
Confirms etiology of hemolytic anemia in individuals with hemolysis or a family history of hemolytic anemia.
Genes tested: ADA, AK1, ALDOA, ANK1, CYB5R3, EPB41, EPB42, G6PD, GCLC, GP1, GSR, GSS, HK1, NT5C3A, PFKL, PGK1,PFKM, PIEZO1, PKLR, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7
Source: Arup Laboratories

Hereditary Spherocytosis NGS Panel

Targeted Genes: ANK1, EPB42, SLC4A1, SPTA1, SPTB
Source: Fulgent Diagnostics

Invitae Glanzmann Thrombasthenia Panel

This test analyzes ITGA2B and ITGB3, the two genes that are associated with Glanzmann thrombasthenia. Glanzmann thrombasthenia is a rare disorder in which an absence or dysfunction of the αIIbβ3 receptor on platelets results in spontaneous bruising and mucocutaneous bleeding.
Source: Invitae

Invitae Hereditary Hemochromatosis Panel

The Invitae Hereditary Hemochromatosis Panel analyzes five genes associated with hereditary hemochromatosis (HH), a genetic disorder that causes increased iron absorption and can lead to iron overload. These genes were curated, based on the available evidence to date, to provide a comprehensive test for indications related to hemochromatosis-related iron overload.
Source: Invitae

Invitae Hereditary Thrombophilia Panel

The Invitae Hereditary Thrombophilia Panel analyzes five genes that are associated with an increased risk for developing thromboembolism. Individuals who have inherited a pathogenic variant in one of these genes have a predisposition to excessive blood clot formation, most often in the legs (deep vein thrombosis). Women with hereditary thrombophilia also have an increased risk of miscarriage and other pregnancy complications.
Source: Invitae

Megaloblastic anemia panel

Targeted genes: AMN, CUBN, GIF

Source: Centogene

Spherocytosis panel

Targeted genes: ANK1, EPB42, SLC4A1, SPTA1, SPTB

Source: Centogene

Thrombocytopenia panel

Targeted genes: ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9, RUNX1, WAS

Source: Centogene

Thrombo Incode

Personalizes risk assessment for blood clotting disorders.
Analyzes seven genes related with elevated risk of thrombosis.

Source: Selah Genomics

Vascular Malformations Panel

Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
Preferred DNA test to confirm clinical diagnosis of genetic related vascular malformations (ie, capillary malformation-arteriovenous malformation syndrome, cerebral cavernous malformation, glomuvenous malformation, hereditary hemorrhagic telangiectasia, juvenile polyposis syndrome/hereditary hemorrhagic telangiectasia, multiple cutaneous and mucosal venous malformations, Parkes Weber syndrome, PTEN-related Proteus syndrome).
Source: Arup Laboratories


Lymphocytes - NGS Panels

B-negative SCID panel

Targeted genes: ADA, AK2, DCLRE1C, LIG4, NHEJ1, RAC2, RAG1, RAG2

Source: Centogene

Severe Combined Immunodeficiency (SCID) is caused by dysfunction or reduced number of lymphocytes. 

B-positive SCID panel

Targeted genes: CD3D, CD3E, CD247, FOXN1, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RMRP, STAT5B, STIM1, TBX1, ZAP70

Source: Centogene

Severe Combined Immunodeficiency (SCID) is caused by dysfunction or reduced number of lymphocytes.

Comprehensive SCID panel

Targeted genes: ADA, AK2, CD3D, CD3E, CD247, DCLRE1C, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70

Source: Centogene

Comprehensive SCID Panel

Targeted genes: ADA, AK2, CD3D, CD3E, CD3Z, DCLRE1C (ARTEMIS), IL2RG, IL7R, JAK3, LIG4, NHEJ1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, ZAP70

Disorders:
LIG4 Syndrome
Neutrophil Immunodeficiency Syndrome
Purine Nucleoside Phosphorylase Deficiency
Reticular Dysgenesis
Severe Combined Immune Deficiency (SCID)

Source: GeneDx

Familial Hemophagocytic Lymphohistiocytosis NGS Panel

Targeted Genes: PRF1, RAB27A, STX11, STXBP2, UNC13D
Source: Fulgent Diagnostics

Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial

Targeted genes: PRF1, UNC13D, STX11, STXBP2, RAG1, RAG2, DCLRE1C

Source: CGC Genetics

Hemophagocytic Lymphohistiocytosis panel

Targeted genes: PRF1, UNC13D, STX11, STXBP2

Source: Centogene

LymphoTrack® Dx Assay

Invivoscribe’s LymphoTrack® Dx Assays are used to identify and track clonal lymphocyte populations. These CE-IVD assays, developed for use with the leading Next-Generation Sequencing (NGS) platforms, include optimized multiplex PCR master mixes with primers incorporating platform specific adapters and specimen tracking sequencing identification tags for a one-step PCR workflow. A comprehensive bioinformatics software package is provided free of charge with purchase; enabling you to identify the DNA sequence, clonal prevalence, V-J family identity for each gene rearrangements, and with the IGH assays, the extent of IGHVsomatic hypermutation (SHM). With this state-of-the-art assay, the gene rearrangement status of several million lymphocytes in blood, bone marrow, or tissue samples can be both identified and characterized.
Source: Invivoscribe

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