Genomics Precision Diagnostic > Hematology Precision Panel > Bone Marrow Failure Syndromes Precision Panel

Bone Marrow Failure Syndromes Precision Panel

Bone Marrow Failure Syndromes (BMFS) are a group of disorders where the ability of the bone marrow to carry out effective haematopoiesis is impaired, result of intrinsic stem cell/progenitor defects.

Overview

Bone Marrow Failure Syndromes (BMFS) are a group of disorders where the ability of the bone marrow to carry out effective haematopoiesis is impaired, result of intrinsic stem cell/progenitor defects. They are a rare yet clinically relevant cause of neonatal haematological and non-haematological manifestations with an increased risk of malignancy. Some BMFS may present with cytopenias in the neonatal period whereas others may present only with congenital physical abnormalities and progress to pancytopenia later in life. BMFS can be inherited or acquired. Morbidity and mortality from pancytopenia are caused by low levels of mature blood cells. Advancements in genetic analysis has provided a better understanding of normal hematopoiesis and how this is disrupted in patients with bone marrow failure.
The Igenomix Bone Marrow Failure Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of pancytopenia ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Bone Marrow Failure Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Weakness and fatigue
- Pallor
- Family history of BMFS
- Congestive heart failure
- Shortness of breath
- Bruising on the skin
- Gum bleeding
- Nosebleeds
- Fever, cellulitis, pneumonia or sepsis
- Physical developmental abnormalities

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of stem cell transplant, recurrent transfusions, medical treatment to prevent complications and surveillance for malignancy.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

Gene	OMIM Diseases	Inheritance*	% Gene Coverage (20x)	HGMD**
*ABCB7*	Anemia, Ataxia	X,XR,G	100	–
*ACBD5*	Retinal Dystrophy, Leukodystrophy	AR	100	3 of 3
*ACD*	Dyskeratosis Congenita, Melanoma, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.89	14 of 14
*ADA2*	Polyarteritis Nodosa, Sneddon Syndrome, Blackfan-Diamond Anemia	AR	100	–
*AK2*	Reticular Dysgenesia	AR	100	21 of 21
*ALAS2*	Anemia, Protoporphyria	X,XR,XD,G	100	–
*ANKRD26*	Thrombocytopenia	AD	98.76	3 of 23
*AP3B1*	Hermansky-Pudlak Syndrome	AR	100	34 of 35
*ATM*	Ataxia- Telangiectasia, Breast Cancer, Mantle Cell Lymphoma	AD,AR	99.93	1608 of 1632
*ATR*	Cutaneous Telangiectasia And Cancer Syndrome, Seckel Syndrome	AD,AR	99.98	39 of 40
*ATRX*	Alpha-Thalassemia Myelodysplasia Syndrome, Carpenter-Waziri Syndrome, Chudley– Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Neuroendocrine Tumor Of Stomach, Smith-Fineman-Myers Syndrome	X,XR,XD,G	98.5	–
*BLM*	Bloom Syndrome	AR	97.19	133 of 141
*BRCA1*	Breast Cancer, Fanconi Anemia, Pancreatic Carcinoma, Peritoneal Carcinoma	AD,AR,MU	98.97	2783 of 2894
*BRCA2*	Fanconi Anemia, Glioma Susceptibility, Medulloblastoma, Multiple Cancer Types, Wilms Tumor, Nephroblastoma	AD,AR,MU	98.51	3343 of 3451
*BRIP1*	Fanconi Anemia, Breast And Ovarian Cancer Syndrome	AD,AR	94.97	235 of 237
*CARD11*	B-Cell Expansion, Immunodeficiency	AD,AR	100	30 of 31
*CBL*	Leukemia, Noonan Syndrome, Mastocytosis	AD	100	46 of 47
*CDAN1*	Anemia	AR	99.59	68 of 68
*CDIN1*	Anemia	AR	–	–
*CEBPA*	Leukemia	AD	67.47	14 of 17
*CHEK2*	Li-Fraumeni Syndrome, Osteosarcoma, Prostate Cancer , Breast And Ovarian Cancer	AD	99.47	307 of 310
*CLPB*	3-Methylglutaconic Aciduria	AR	96	26 of 26
*CSF3R*	Neutropenia	AR	99.99	19 of 19
*CTC1*	Cerebroretinal Microangiopathy, Dyskeratosis Congenita	AR	99.73	43 of 44
*CTLA4*	Autoimmune Lymphoproliferative Syndrome, Hashimoto Thyroiditis, Lupus Erythematosus, Mycosis Fungoides, Granulomatosis, Sézary Syndrome	AD	99.97	60 of 60
*CXCR4*	Whim Syndrome	AD	100	19 of 19
*DCLRE1B*	Hoyeraal Hreidarsson Syndrome, Dyskeratosis, Spastic Paraplegia	–	99.77	1 of 1
*DDX41*	Myeloproliferative And Lymphoproliferative Neoplasms	AD	99.99	56 of 56
*DKC1*	Dyskeratosis Congenita, Hoyeraal- Hreidarsson Syndrome	X,XR,G	100	–
*DNAJC21*	Bone Marrow Failure Syndrome, Shwachman– Diamond Syndrome	AR	99.83	12 of 12
*DNMT3A*	Heyn-Sproul- Jackson Syndrome, Leukemia, Tatton-Brown- Rahman Syndrome, Pheochromocytoma, Paraganglioma	AD	99.95	67 of 68
*DUT*	Cysticercosis	–	99.5	1 of 1
*EFL1*	Shwachman- Diamond Syndrome	AR	99.94	–
*ELANE*	Cyclic Hematopoiesis , Neutropenia	AD	100	227 of 227
*EPCAM*	Colorectal Cancer, Diarrhea, Lynch Syndrome	AR	99.94	52 of 70
*EPO*	Diamond-Blackfan Anemia, Erythrocytosis	AD,AR	99.89	3 of 4
*ERCC4*	Fanconi Anemia, Xeroderma Pigmentosum, Xfe Progeroid Syndrome, Cockayne Syndrome	AR	99.68	69 of 72
*ERCC6L2*	Bone Marrow Failure Syndrome	AR	97.82	13 of 14
*ETV6*	Leukemia, Thrombocytopenia	AD	100	41 of 41
*FANCA*	Fanconi Anemia	AR	95.17	497 of 502
*FANCB*	Fanconi Anemia, Vacterl, Hydrocephalus	X,XR,G	95.53	–
*FANCC*	Fanconi Anemia	AR	100	75 of 75
*FANCD2*	Fanconi Anemia	AR	100	62 of 63
*FANCE*	Fanconi Anemia	AR	97	17 of 18
*FANCF*	Fanconi Anemia	AR	99.31	17 of 18
*FANCG*	Fanconi Anemia	–	100	94 of 94
*FANCI*	Fanconi Anemia	AR	100	53 of 54
*FANCL*	Fanconi Anemia	AR	100	25 of 26
*FANCM*	Ovarian And Spermatogenic Failure, Fanconi Anemia, Male Infertility With Azoospermia Or Oligozoospermia	AR	99.73	59 of 61
*FAS*	Autoimmune Lympho- proliferative Syndrome, Behçet Disease, Vogt-Koyanagi– Harada Disea	AD	100	135 of 135
*G6PC3*	Neutropenia	AR	100	45 of 45
*GATA1*	Anemia, Down Syndrome, Thrombo- cytopenia, Hemolysis, Beta- Thalassemia, Blackfan– Diamond Anemia, Congenital Erythropoietic Porphyria	X,XR,G	99.93	–
*GATA2*	Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Leukemia, Lymphedema, Myelodysplastic Syndrome, Deafness	AD	100	137 of 142
*GFI1*	Neutropenia	AD	98.77	4 of 4
*GLRX5*	Anemia, Spasticity With Hyperglycinemia	AR	97.17	7 of 8
*GMPS*	Pallister– Killian Syndrome	–	99.91	–
*GNE*	Nonaka Myopathy, Sialuria	AD,AR	99.97	248 of 253
*GP1BA*	Bernard-Soulier Syndrome, Neuropathy, Von Willebrand Disease, Thrombocytopenia	AD,AR	99.98	73 of 73
*HAX1*	Neutropenia	AR	100	22 of 23
*HOXA11*	Radioulnar Synostosis, Amegakaryocytic Thrombocytopenia	AD	99.92	3 of 3
*IKZF1*	Immunodeficiency, Stevens-Johnson Syndrome	AD	99.98	43 of 43
*ITGA2B*	Glanzmann Thrombasthenia, Thrombocytopenia	AD,AR	100	237 of 239
*ITK*	Lymphoproliferative Syndrome	AR	100	19 of 19
*JAGN1*	Neutropenia	AR	99.95	10 of 10
*JAK2*	Budd-Chiari Syndrome, Erythrocytosis, Leukemia, Myelofibrosis, Polycythemia Vera, Thrombocythemia, Thrombocytosis	AD,AR	99.63	25 of 27
*KDM1A*	Cleft Palate, Developmental Delay	AD	98.18	16 of 16
*KIF23*	Dyserythropoietic Anemia	–	99.63	3 of 3
*KIT*	Gastrointestinal Stromal Tumor, Leukemia, Mast Cell Disease, Piebald Trait, Testicular Tumor, Piebaldism, Mastocytosis, Hematologic Neoplasm	AD	100	112 of 112
*KLF1*	Anemia, Beta- Thalassemia	AD	99.76	48 of 50
*KRAS*	Aplasia Cutis Congenita, Cardiofacio- cutaneous Syndrome, Leukemia, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning– Feuerstein-Mims Syndrome, Encephalo- craniocutaneous Lipomatosis, Linear Nevus Sebaceus Syndrome, Lynch Syndrome, Toriello-Lacassie– Droste Syndrome	AD	100	38 of 38
*LAMTOR2*	Primary Immunodeficiency Syndrome	AR	100	1 of 1
*LIG4*	Lig4 Syndrome, Myeloma, Dubowitz Syndrome, Omenn Syndrome	AR	99.48	46 of 46
*LYST*	Chediak-Higashi Syndrome	AR	99.98	117 of 117
*MAD2L2*	Fanconi Anemia	AR	99.91	1 of 1
*MASTL*	Thrombocytopenia, Gray Platelet Syndrome	–	99.95	5 of 5
*MBD4*	Rett Syndrome, Angelman Syndrome	–	100	14 of 14
*MECOM*	Radioulnar Synostosis, Thrombocytopenia	AD	99.97	26 of 27
*MLH1*	Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome, Lynch Syndrome	AD,AR	99.94	1079 of 1118
*MPIG6B*	Thrombocytopenia, Anemia, Myelofibrosis	AR	–	–
*MPL*	Thrombocytopenia, Myelofibrosis, Thrombocytosis, Polycythemia Vera	AD,AR	100	55 of 55
*MSH2*	Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome	AD,AR	99.99	1032 of 1057
*MSH6*	Colorectal Cancer, Endometrial Carcinoma, Mismatch Repair Cancer Syndrome, Lynch Syndrome, Muir-Torre Syndrome	AD,AR	99.28	613 of 641
*MYH9*	Deafness, May- Hegglin Anomaly	AD	100	144 of 145
*MYSM1*	Bone Marrow Failure Syndrome, Skeletal Dysplasia	AR	98.5	4 of 4
*NAF1*	Diskeratosis	–	99.74	2 of 2
*NBN*	Aplastic Anemia, Leukemia, Nijmegen Breakage Syndrome	AR,MU,P	100	200 of 200
*NF1*	Leukemia, Noonan Syndrome, Neurofibromatosis, Watson Syndrome, 17q11.2 Microduplication Syndrome, Pheochromocytoma- Paraganglioma	AD	97.97	3082 of 3166
*NHP2*	Dyskeratosis Congenita	AR	100	3 of 3
*NOP10*	Dyskeratosis Congenita	AR	100	1 of 1
*NRAS*	Colorectal Cancer, Thyroid Cancer, Epidermal Nevus, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning– Feuerstein-Mims Syndrome, Melanocytic Nevus	AD	100	15 of 15
*PALB2*	Fanconi Anemia, Pancreatic Carcinoma, Breast And Ovarian Cancer	AD,AR	98.78	601 of 617
*PARN*	Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal-Hreidarsson Syndrome, Idiopathic Pulmonary Fibrosis	AD,AR	99.98	33 of 33
*PAX5*	Gray Zone Lymphoma	–	100	8 of 8
*PGM3*	Immunodeficiency	AR	99.99	17 of 17
*PIEZO1*	Stomatocytosis, Lymphedema	AD,AR	99.98	107 of 107
*PMS2*	Colorectal Cancer, Mismatch Repair Cancer Syndrome, Lynch Syndrome	AD,AR	97.17	264 of 285
*POT1*	Glioma, Melanoma	AD	99.76	42 of 47
*PRF1*	Aplastic Anemia, Hemophagocytic Lympho- histiocytosis, Lymphoma Non-Hodgkin	AR	99.99	196 of 196
*PTPN11*	Myelomonocytic Leukemia, Leopard Syndrome, Metacho- ndromatosis, Noonan Syndrome	AD	100	150 of 151
*PTPRJ*	Colorectal Cancer	AD	97.97	9 of 10
*PUS1*	Mitochondrial Myopathy, Sideroblastic Anemia	AR	99.58	13 of 14
*RAB27A*	Griscelli Syndrome	AR	100	54 of 55
*RAC2*	Hypogamma- globulinemia, Neutrophil Immunodeficiency Syndrome	AD,AR	100	5 of 5
*RAD51*	Breast And Ovarian Cancer, Fanconi Anemia, Mirror Movements	AD	99.98	16 of 16
*RAD51C*	Breast-Ovarian Cancer, Fanconi Anemia	AR	100	130 of 130
*RAD51D*	Breast And Ovarian Cancer	–	100	97 of 97
*RBBP6*	Retinoblastoma, Esophageal Cancer	–	99.38	6 of 6
*RBM8A*	Thrombocytopenia, Absent Radius Syndrome	AR	100	4 of 4
*RFWD3*	Fanconi Anemia	AR	99.99	2 of 2
*RMRP*	Anauxetic Dysplasia, Hypoplasia, Omenn Syndrome	AR	–	–
*RPL11*	Diamond-Blackfan Anemia	AD	100	52 of 52
*RPL15*	Diamond-Blackfan Anemia	AD	99.74	8 of 9
*RPL26*	Diamond-Blackfan Anemia	AD	92.97	1 of 1
*RPL27*	Diamond-Blackfan Anemia	AD	100	2 of 2
*RPL31*	Blackfan-Diamond Anemia	–	100	0 of 1
*RPL35*	Diamond-Blackfan Anemia	AD	100	1 of 1
*RPL35A*	Diamond-Blackfan Anemia	AD	100	12 of 12
*RPL5*	Diamond-Blackfan Anemia	AD	100	95 of 95
*RPL9*	Diamond-Blackfan Anemia	–	100	2 of 2
*RPS10*	Diamond-Blackfan Anemia	AD	100	7 of 7
*RPS15A*	Diamond-Blackfan Anemia	AD	98.74	1 of 1
*RPS17*	Diamond- Blackfan Anemia	AD	0	0 of 7
*RPS19*	Diamond-Blackfan Anemia	AD	78	159 of 165
*RPS24*	Diamond- Blackfan Anemia	AD	90.17	11 of 14
*RPS26*	Diamond- Blackfan Anemia	AD	100	28 of 29
*RPS27*	Diamond- Blackfan Anemia	AD	99.85	1 of 1
*RPS28*	Diamond- Blackfan Anemia, Mandibulofacia Dysostasis	AD	100	1 of 1
*RPS29*	Diamond- Blackfan Anemia	AD	100	4 of 4
*RPS7*	Diamond -Blackfan Anemia	AD	100	7 of 10
*RTEL1*	Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.73	127 of 131
*RUNX1*	Leukemia, Platelet Disorder, Systemic Mastocytosis	AD	99.83	90 of 90
*SAMD9*	Mirage Syndrome, Tumoral Calcinosis	AD,AR	99.72	45 of 46
*SAMD9L*	Ataxia- Pancytopenia Syndrome	AD	99.81	39 of 39
*SBDS*	Aplastic Anemia, Shwachman– Diamond Syndrome	AR	100	77 of 79
*SBF2*	Charcot-Marie- Tooth Disease	AR	99.98	44 of 44
*SEC23B*	Anemia, Cowden Syndrome	AD,AR	100	119 of 127
*SETBP1*	Mental Retardation, Schinzel– Giedion Syndrome	AD	98.61	43 of 43
*SH2B3*	Erythrocytosis, Myelofibrosis myelofibrosis With Myeloid Metaplasia, Thrombo- cythemia	AD	93.59	17 of 17
*SH2D1A*	Lympho- proliferative Syndrome	X,XR,G	99.94	–
*SLC19A2*	Thiamine- Responsive Megaloblastic Anemia Syndrome	AR	99.99	67 of 68
*SLC25A38*	Anemia	AR	100	32 of 32
*SLC35C1*	Congenital Disorder Of Glycosylation	AR	99.73	8 of 8
*SLC37A4*	Glycogen Storage Disease	AR	99.97	112 of 112
*SLX4*	Fanconi Anemia	AR	99.92	76 of 76
*SMARCD2*	Specific Granule Deficiency	AR	91.58	1 of 1
*SRP54*	Neutropenia, Shwachman- Diamond Syndrome	AD,AR	99.95	8 of 8
*SRP72*	Bone Marrow Failure Syndrome	AD	99.95	3 of 3
*STAT3*	Autoimmune Disease, Leukemia, Hyper-Ige Syndrome, Diabetes Mellitus	AD	100	171 of 171
*STIM1*	Immune Dysfunction, T-Cell Inactivation, Myopathy, Stormorken Syndrome	AD,AR	100	28 of 28
*STN1*	Cerebroretinal Microangiopathy, Idiopathic Pulmonary Fibrosis	AR	99.87	–
*STX11*	Hemophagocytic Lymphohistiocytosis	AR	100	24 of 24
*STXBP2*	Hemophagocytic Lymphohistiocytosis	AR	99.17	88 of 93
*TAZ*	Barth Syndrome, Dilated Cardiomyopathy	X,XR,G	100	–
*TCIRG1*	Osteopetrosis, Neutropenia, Dysosteosclerosis	AR	100	140 of 146
*TERC*	Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Aplastic Anemia, Idiopathic Pulmonary Fibrosis	AD	–	–
*TERF2IP*	Familial Melanoma	–	94.94	6 of 6
*TERT*	Aplastic Anemia, Dyskeratosis Congenita, Leukemia, Melanoma, Meningioma, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.09	194 of 197
*TET2*	Myelodysplastic Syndrome, Sideroblastic Anemia, Mastocytosis, Essential Thrombocythemia, Polycythemia Vera, Primary Myelofibrosis, Refractory Anemia	–	99.96	15 of 15
*THPO*	Thrombocythemia	AD	100	11 of 11
*TINF2*	Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal- Hreidarsson Syndrome	AD	99.94	47 of 47
*TP53*	Bone Marrow Failure, Glioma, Li- Fraumeni Syndrome, Nasopharyngeal Carcinoma, Papilloma Of Choroid Plexus, Essential Thrombocythemia, Multiple Cancer Types	AD,MU,P	98.92	557 of 563
*TRNT1*	Retinitis Pigmentosa, Erythrocytic Microcytosis, Sideroblastic Anemia, B-Cell Immunodeficiency, Periodic Fevers, Developmental Delay	AR	99.47	22 of 27
*TSR2*	Diamond-Blackfan Anemia	X,XR,G	99.96	–
*TUBB1*	Macrothrombo cytopenia	AD	100	13 of 13
*UBE2T*	Fanconi Anemia	AR	100	4 of 4
*UNC13D*	Hemophagocytic Lymphohistiocytosis	AR	99.78	197 of 202
*USB1*	Poikiloderma, Neutropenia, Dyskeratosis Congenita	AR	100	24 of 24
*VPS13B*	Cohen Syndrome	AR	99.98	182 of 190
*VPS45*	Neutropenia	AR	100	4 of 4
*WAS*	Neutropenia, Thrombocytopenia, Wiskott-Aldrich Syndrome	X,XR,G	100	–
*WDR1*	Periodic Fever, Immunodeficiency, Thrombocytopenia	AR	100	9 of 9
*WIPF1*	Wiskott-Aldrich Syndrome	AR	99.79	3 of 3
*WRAP53*	Dyskeratosis Congenita	AR	100	10 of 10
*XIAP*	Lymphopro- liferative Syndrome	X,XR,G	99.94	–
*XRCC2*	Fanconi Anemia, Male Infertility With Azoospermia Or Oligozoospermia	AR	98.39	28 of 28
*YARS2*	Myopathy, Sideroblastic Anemia	AR	100	22 of 22
*ZCCHC8*	Pulmonary Fibrosis, Bone Marrow Failure	AD	98.53	2 of 2

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Bone Marrow Failure Syndromes Precision Panel

Bone Marrow Failure Syndromes (BMFS) are a group of disorders where the ability of the bone marrow to carry out effective haematopoiesis is impaired, result of intrinsic stem cell/progenitor defects.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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