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

IllnessHaematological malignancies, germline mutations; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Haematological malignancies, germline mutations, comprising 10 core candidate genes and altogether 91 curated genes according to the clinical signs

ID
HP7968
Number of genes
31 Accredited laboratory test
Examined sequence length
20,7 kb (Core-/Core-canditate-Genes)
90,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ANKRD265133NM_014915.3AD
CEBPA1077NM_004364.5AD
DDX411935NM_016222.4AD
ELANE804NM_001972.4AD
ETV61359NM_001987.5Gen Fusion
GATA21443NM_032638.5AD
HAX1840NM_006118.4AR
RUNX11443NM_001754.5AD, Gen Fusion
SAMD9L4756NM_152703.5AD
SRP721833NM_001267722.2AD
ATM9171NM_000051.4AR
BRCA15592NM_007294.4AR
BRCA210257NM_000059.4AR
BRIP13750NM_032043.3AR
CHEK21632NM_007194.4AD
ERCC42751NM_005236.3AR
MLH12271NM_000249.4AR
MSH22805NM_000251.3AR
MSH64083NM_000179.3AR
NBN2265NM_002485.5AR
NF18457NM_001042492.3AD
PALB23561NM_024675.4AR
PMS22589NM_000535.7AR
PTPN111782NM_002834.5AD
RPL35A333NM_000996.4AD
RPS17408NM_001021.6AD
RPS24393NM_033022.4AD
SAMD94770NM_001193307.2AD
STN11221NM_024928.5AR
TP531182NM_000546.6AD
XRCC2843NM_005431.2AR

Informations about the disease

Clinical Comment

Leukemia predisposition genes: Fanconi anaemia, Diamond-Blackfan anemia, Dyskeratosis congenita, shwachman-Diamond syndrome, severe congenital neutrpenia, familial MDS/AML with mutated GATA2 (Emberger syndrome, MonoMac syndrome), MIRAGE syndrome, Ataxia-pancytopenia syndrome, Bone marrow failure syndrome 1, familial MDS/AML with mutated DDX41, familial platelet disorder with propensity to myeloid malignancy, Thrombocytopenia 2+ 5, Familial AML with CEBPA mutation, Li-Fraumeni syndrome, ALL3 susceptibility, constitutional mismatch repair deficiency syndrome

 

Synonyms
  • Alias: Myeloide Leukämie, Prädisposition
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Anauxetic dysplasia 1 (RMRP)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
  • Allelic: Breast cancer, male, susceptibility to(BRCA2)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Breast cancer, susceptibility to (CHEK2)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: Cartilage-hair hypoplasia (RMRP)
  • Allelic: Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Allelic: Cerebroretinal microangiopathy with calcifications + cysts (STN1)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Cleft palate, psychomotor retardation + distinctive facial features (KDM1A)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Colorectal cancer, susceptibility to (CHEK2)
  • Allelic: Emberger syndrome (GATA2)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Glioblastoma 3(BRCA2)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: LEOPARD syndrome 1 (PTPN11)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Metachondromatosis 156250 AD 3
  • Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Allelic: Muir-Torre syndrome (MLH1, MSh2)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Osteosarcoma, soft tissue sarcomas [panelapp)] (RPS27A)
  • Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPL23)
  • Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPL27)
  • Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPL36)
  • Allelic: Osteosarcoma, soft tissue sarcomas [panelapp] (RPS15)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Premature ovarian failure 17 (XRCC2)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Prostate cancer, familial, susceptibility to (CHEK2)
  • Allelic: Spermatogenic failure (XRCC2)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: Watson syndrome (NF1)
  • Allelic: Wilms tumor (BRCA2)
  • Allelic: XFE progeroid syndrome (ERCC4)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Aplastic anemia (NBN)
  • Aplastic anemia (PRF1)
  • Aplastic anemia, susceptibility to (SBDS)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Ataxia-telangiectasia (ATM)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Autoimmune lymphoproliferative syndrome (FAS)
  • Autoimmune lymphoproliferative syndrome, type IA (FAS)
  • Bloom syndrome (BLM)
  • Bone marrow failure syndrome 1 (SRP72)
  • Bone marrow failure syndrome 2 (ERCC6L2)
  • Bone marrow failure syndrome 3 (DNAJC21)
  • Bone marrow failure syndrome 5 (TP53)
  • Bone marrow failure syndrome, typ AR [panelapp] (RPL23)
  • Bone marrow failure syndrome, typ AR [panelapp] (RPL27)
  • Bone marrow failure syndrome, typ AR [panelapp] (RPL36)
  • Bone marrow failure syndrome, typ AR [panelapp] (RPS15)
  • Bonne marrow failure syndrome, typ AR [panelapp)] (RPS27A)
  • Colorectal cancer, hereditary nonpolyposis, type 1 (MSH1)
  • Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
  • Diamond-Blackfan anemia 1 (RPS19)
  • Diamond-Blackfan anemia 10 (RPS26)
  • Diamond-Blackfan anemia 11 (RPL26)
  • Diamond-Blackfan anemia 12 (RPL15)
  • Diamond-Blackfan anemia 13 (RPS29)
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (TSR2)
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
  • Diamond-Blackfan anemia 16 (RPL27)
  • Diamond-Blackfan anemia 17 (RPS27)
  • 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 [panelapp)] (RPS27A)
  • Diamond-Blackfan anemia [panelapp] (RPL23)
  • Diamond-Blackfan anemia [panelapp] (RPL27)
  • Diamond-Blackfan anemia [panelapp] (RPL36)
  • Diamond-Blackfan anemia [panelapp] (RPS15)
  • Diamond-blackfan anemia 3 (RPS24)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 1 (NOP10)
  • Dyskeratosis congenita, AR 2 (NHP2)
  • Dyskeratosis congenita, AR 3 (WRAP53)
  • Dyskeratosis congenita, AR 4 (TERT)
  • Dyskeratosis congenita, AR 5 (RTEL1)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Dyskeratosis congenita, XL (DKC1)
  • Fanconi anemia, complementation group A, B, C, D2, E, F, G, I, L (FANCA, ... FANCL)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group P (SLX4)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fanconi anemia, complementation group S (BRCA1)
  • Fanconi anemia, complementation group T (UBE2T)
  • Fanconi anemia, complementation group U (XRCC2)
  • Fanconi anemia, complementation group V (MAD2L2)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hyper-IgE recurrent infection syndrome (STAT3)
  • Hyper-IgE recurrent infection syndrome, AR (DOCK8)
  • Immunodeficiency 21 (GATA2)
  • Immunodeficiency, common variable, 13 (IKZF1)
  • Juvenile myelomonocytic leukemia (CBL)
  • LIG4 syndrome (LIG4)
  • Leukemia, acute lymphoblastic (NBN)
  • Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
  • Leukemia, acute myeloid (CEBPA)
  • Leukemia, acute myeloid (RUNX1)
  • Leukemia, acute myeloid (TERT)
  • Leukemia, acute myeloid, somatic (CEBPA)
  • Leukemia, acute myeloid, somatic (ETV6)
  • Leukemia, acute myeloid, susceptibility to (GATA2)
  • Leukemia, juvenile myelomonocytic (NF1)
  • Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Li-Fraumeni syndrome (TP53)
  • Li-Fraumeni syndrome 2 (CHEK2)
  • Lymphoma, non-Hodgkin (PRF1)
  • Lymphoproliferative syndrome 1 (ITK)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • MDS, AML [panelapp)] (RPS27A)
  • MDS, AML [panelapp] (RPL23)
  • MDS, AML [panelapp] (RPL27)
  • MDS, AML [panelapp] (RPL36)
  • MDS, AML [panelapp] (RPS15)
  • MIRAGE syndrome (SAMD9)
  • Mismatch repair cancer syndrome 1 (MLH1)
  • Mismatch repair cancer syndrome 2 (MSH2)
  • Mismatch repair cancer syndrome 3 (MSH6)
  • Mismatch repair cancer syndrome 4 (PMS2)
  • Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
  • Multiple myeloma, resistance to (LIG4)
  • Myelodysplastic syndrome, susceptibility to (GATA2)
  • Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, susceptibility (DDX41)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Neutropenia, severe congenital, XL (WAS)
  • Nijmegen breakage syndrome (NBN)
  • Non-hodgkin lymphoma; Squamous carcinoma; Leukemia [panelapp] (RMRP)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
  • Revesz syndrome (TINF2)
  • Shwachman-Diamond syndrome (SBDS)
  • Thrombocytopenia 2 (ANKRD26)
  • Thrombocytopenia 5 (ETV6)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL (WAS)
  • Thrombocytopenia, XL, intermittent (WAS)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Wiskott-Aldrich syndrome (WAS)
  • Xeroderma pigmentosum, group F (ERCC4)
  • Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

Test-Stärken

  • DAkkS-akkreditiertes Labor
  • EU-Richtlinie für IVD in Umsetzung
  • Qualitäts-kontrolliert arbeitendes Personal
  • Leistungsstarke Sequenzierungstechnologien, fortschrittliche Target-Anreicherungsmethoden und Präzisions-Bioinformatik-Pipelines sorgen für überragende analytische Leistung
  • Sorgfältige Kuratierung klinisch relevanter und wissenschaftlich begründeter Gen-Panels
  • eine Vielzahl nicht Protein-kodierender Varianten, die in unseren klinischen NGS-Tests mit erfasst werden
  • unser strenges Variantenklassifizierungsschema nach ACMG-Kriterien
  • unser systematischer klinischer Interpretations-Workflow mit proprietärer Software ermöglicht die genaue und nachvollziehbare Verarbeitung von NGS-Daten
  • unsere umfassenden klinischen Aussagen

Testeinschränkungen

  • Gene mit eingeschränkter Abdeckung werden gekennzeichnet
  • Gene mit kompletten oder partiellen Duplikationen werden gekennzeichnet
  • es wird angenommen, dass ein Gen suboptimal abgedeckt ist, wenn >90% der Nukleotide des Gens bei einem Mapping-Qualitätsfaktor von >20 (MQ>20) nicht abgedeckt sind
  • die Sensitivität der Diagnostik zur Erkennung von Varianten mit genannten Testeinschränkungen ist möglicherweise begrenzt bei:
  • Gen-Konversionen
  • komplexe Inversionen
  • Balancierte Translokationen
  • Mitochondriale Varianten
  • Repeat-Expansionen, sofern nicht anders dokumentiert
  • nicht kodierende Varianten, die Krankheiten verursachen, die von diesem Panel nicht mit abgedeckt werden
  • niedriger Mosaik-Status
  • Repeat-Blöcke von Mononukleotiden
  • Indels >50bp (Insertionen-Deletionen)
  • Deletionen oder Duplikationen einzelner Exons
  • Varianten innerhalb von Pseudogenen
  • die analytische Sensitivität kann geringer ausfallen werden, wenn die DNA nicht von amedes genetics extrahiert wurde

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.