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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBone marrow dysfunction, hereditary; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for inherited bone marrow dysfunction comprising 11 or altogether 121 curated genes according to the clinical signs

ID
KP4958
Number of genes
60 Accredited laboratory test
Examined sequence length
24,0 kb (Core-/Core-canditate-Genes)
127,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
BRCA210257AR
BRIP13750AR
DKC11545XLR
ELANE804AD
GFI11269AD
HAX1840AR
PALB23561AR
RPL35A333AD
RPS19438AD
RPS24393AD
SBDS753AR
BRCA15592AR
CBL2721AD
CEBPA1077AD
CSF3R2511AD, AR
CTC13654AR
CXCR41059AD
DNAJC212049AR
EFL13382AR
ERCC42751AR
ERCC6L22106AR
FANCA4368AR
FANCB2580XLR
FANCC1677AR
FANCE1611AR
FANCF1125AR
FANCG1869AR
FANCI3987AR
FANCL1128AR
FANCM6147AR
FLT32982AD, SMu
G6PC31041AR
GATA11242XLR
GATA21443AD
MPL1908AR
NBN2265AR, Sus
NHP2273AR
NOP10195AR
PARN1920AD, AR
PRF11668AR
RAD51C1131AR, Sus
RMRP300AR
RPL11537AD
RPL5894AD
RPS26348AD
RPS29204AD
RPS7585AD
RTEL13732AD, AR
SAMD94770AD
SAMD9L4756AD
SLX45505AR
TAFAZZIN879XLR
TCN21284AR
TERT3399AR
TINF21356AD
VPS451617AR
WAS1509XLR
WIPF11512AR
WRAP531647AR
XK1335XL

Informations about the disease

Clinical Comment

Triphasic, at 2-5 years (inherited most common), between 20-25 years, after 65 years (acquired causes); inherited 10%-15%, 30% pediatric -> 65/1 000 000 live births/y.

 

Synonyms
  • Alias: Bone marrow failure syndromes, inherited
  • Allelic: AIDS, rapid progression to (IFNG)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Cartilage-hair hypoplasia (RMRP)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Dyskeratosis congenita, AD 4 (RTEL1)
  • Allelic: Dyskeratosis congenita, AR 4 (TERT)
  • Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
  • Allelic: Emberger syndrome (GATA2)
  • Allelic: Hepatitis C virus, response to therapy of (IFNG)
  • Allelic: Immunodeficiency 21 (GATA2)
  • Allelic: Immunodeficiency 69, mycobacteriosis (IFNG)
  • Allelic: Juvenile myelomonocytic leukemia (CBL)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Leukemia, acute myeloid, susceptibility to (GATA2)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
  • Allelic: Myocardial infarction, susceptibility to (GCLC)
  • Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTR)
  • Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTRR)
  • Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
  • Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
  • Allelic: Nijmegen breakage syndrome (NBN)
  • Allelic: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: Proteinuria, chronic benign (CUBN)
  • Allelic: Resistance to malaria due to G6PD deficiency (G6PD)
  • Allelic: Retinitis pigmentosa 79 (HK1)
  • Allelic: TSC2 angiomyolipomas, renal, modifier of (IFNG)
  • Allelic: Thrombocythemia 2 (MPL)
  • Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Allelic: Thrombocytopenia, XL (WAS)
  • Allelic: Thrombocytopenia, XL, intermittent (WAS)
  • Allelic: Thrombocytopenia, XL, with /-out dyserythropoietic anemia (GATA1)
  • Allelic: Thrombocytopenia, congenital amegakaryocytic (MPL)
  • Allelic: Tuberculosis, protection against (IFNG)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: Wilms tumor (BRCA2)
  • Allelic: Wiskott-Aldrich syndrome (WAS)
  • Allelic: XFE progeroid syndrome (ERCC4)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
  • Acute myeloid leukaemia [panelapp] (NPM1)
  • Adenosine triphosphate, elevated, of erythrocytes (PKLR)
  • Allelic: Cowden syndrome 7 (SEC23B
  • Allelic: Distal renal tubular acidosis 1 (SLC4A1)
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Lymphatic malformation 6 (PIEZO1)
  • Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Anauxetic dysplasia 1 (RMRP)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Anemia, hemolytic, Rh-null, regulator type (RHAG)
  • Anemia, hemolytic, due to UMPH1 deficiency (NT5C3A)
  • Anemia, hypochromic microcytic, with iron overload 1 (SLC11A2)
  • Anemia, neonatal hemolytic, fatal or near-fatal (SPTB)
  • Anemia, sideroblastic, 1 (ALAS2)
  • Anemia, sideroblastic, 2, pyridoxine-refractory (SLC25A38)
  • Anemia, sideroblastic, with ataxia (ABCB7)
  • Aplastic anemia (IFNG; NBN, PRF1, SBDS)
  • Aplastic anemia, susceptibility to (SBDS)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Atransferrinemia (TF)
  • Bone marrow failure syndrome 2 (ERCC6L2)
  • Bone marrow failure syndrome 3 (DNAJC21)
  • Congenital dyserythropoietic anemia type III [panelapp] (KIF23)
  • Cryohydrocytosis (SLC4A1)
  • Dehydrated hereditary stomatocytosis with/-out pseudohyperkalemia +/- perinatal edema (PIEZO1)
  • Diamond-Blackfan anemia 1 (RPS19)
  • Diamond-Blackfan anemia 10 (RPS26)
  • Diamond-Blackfan anemia 13 (RPS29)
  • Diamond-Blackfan anemia 4 (RPS17)
  • Diamond-Blackfan anemia 5 (RPL35A)
  • Diamond-Blackfan anemia 6 (RPL5)
  • Diamond-Blackfan anemia 7 (RPL11)
  • Diamond-Blackfan anemia 8 (RPS7)
  • Diamond-Blackfan anemia 9 (RPS10)
  • Diamond-blackfan anemia 3 (RPS24)
  • Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
  • Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Dyserythropoietic anemia, congenital, type Ia (CDAN1)
  • Dyserythropoietic anemia, congenital, type Ib (C15orf41 syn. CDIN1)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AR 2 (NHP2)
  • Dyskeratosis congenita, AR 3 (WRAP53)
  • Dyskeratosis congenita, XL (DKC1)
  • Elliptocytosis-1 (EPB41)
  • Elliptocytosis-2 (SPTA1)
  • Elliptocytosis-3 (SPTB)
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia + calvarial hyperostosis (COX4I2)
  • Familial MDS; Myelodysplastic syndromes (CEBPA)
  • Fanconi anemia, complementation group A (FANCA)
  • Fanconi anemia, complementation group B (FANCB)
  • Fanconi anemia, complementation group C (FANCC)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group E (FANCE)
  • Fanconi anemia, complementation group F (FANCF)
  • Fanconi anemia, complementation group G (FANCG)
  • Fanconi anemia, complementation group I (FANCI)
  • Fanconi anemia, complementation group J (BRIP)
  • Fanconi anemia, complementation group L (FANCL)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group O (RAD51C)
  • Fanconi anemia, complementation group P (SLX4)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fanconi anemia, complementation group S (BRCA1)
  • Fanconi anemia, complementation group T (UBE2T)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Glycogen storage disease VII (PFKM)
  • Glycogen storage disease XII (ALDOA)
  • Hemolytic anemia due to adenylate kinase deficiency (AK1)
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (GCLC)
  • Hemolytic anemia due to hexokinase deficiency (HK1)
  • Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
  • Hemolytic anemia, CD59-mediated, with/-out immune-mediated polyneuropathy (CD59)
  • Hemolytic anemia, G6PD deficient; favism (G6PD)
  • Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
  • Homocystinuria-megaloblastic anemia, cblG complementation type (MTR)
  • Imerslund-Grasbeck syndrome 1 (CUBN)
  • Imerslund-Grasbeck syndrome 2 (AMN)
  • Immunodeficiency 52 (LAT)
  • Immunodeficiency, common variable, 13 (IKZF1)
  • Iron-refractory iron deficiency anemia (TMPRSS6)
  • MIRAGE s. [myelodyspl., infection, growth restr., adr. hypoplasia, genit. abn., enteropathy] (SAMD9)
  • Majeed syndrome (LPIN2)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFR)
  • Mental retardation-hypotonic facies syndrome, XL (ATRX)
  • Monosomy 7 myelodysplasia and leukemia syndrome 1 (SAMD9L)
  • Myelodysplastic syndrome (MDS), Paediatric (CBL)
  • Myelodysplastic syndrome (MDS), Paediatric (FLT3)
  • Myelodysplastic syndrome, susceptibility to (GATA2)
  • Myelofibrosis with myeloid metaplasia, somatic (MPL)
  • Myelokathexis, isolated (CXCR4)
  • Myopathy, lactic acidosis + sideroblastic anemia 1 (PUS1)
  • Myopathy, lactic acidosis + sideroblastic anemia 2 (YARS2)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 2, AD (GFI1)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Neutropenia, severe congenital 5, AR (VPS45)
  • Neutropenia, severe congenital 7, AR (CSF3R)
  • Neutropenia, severe congenital, XL (WAS)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Ovalocytosis, SA type (SLC4A1)
  • Overhydrated hereditary stomatocytosis (RHAG)
  • Porphyria, congenital erythropoietic (UROS)
  • Protoporphyria, erythropoietic, XL (ALAS2)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL)
  • Pyropoikilocytosis (SPTA1)
  • Pyruvate kinase deficiency (PKLR)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (HOXA11)
  • Revesz syndrome (TINF2)
  • Shwachman-Diamond syndrome (SBDS)
  • Shwachman-Diamond syndrome 2 (EFL1)
  • Sneddon syndrome (ADA2)
  • Spherocytosis, type 1 (ANK1)
  • Spherocytosis, type 2 (SPTB)
  • Spherocytosis, type 3 (SPTA1)
  • Spherocytosis, type 4 (SLC4A1)
  • Spherocytosis, type 5 (EPB42)
  • Syndromic intellectual disability; cytopenia [panelapp] (RAP1B)
  • Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
  • Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
  • Transcobalamin II deficiency (TCN2)
  • Vasculitis, autoinflammation, immunodeficiency + hematologic defects syndrome (ADA2)
  • WHIM syndrome (CXCR4)
  • [Blood groups Diego, Froese, Swann, Waldner, Wright (SLC4A1)
  • [Malaria, resistance to (SLC4A1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C94.6-

Bioinformatics and clinical interpretation

No text defined