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Know how in the analysis of genetic material.
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IllnessMyeloproliferative neoplasia - genetic predisposition

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Summary

Short information

Comprehensive differential diagnostic panel for Myeloproliferative neoplasia - genetic predisposition; hereditary comprising 98 curated genes according to the clinical signs

ID
MP0990
Number of genes
87 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
186,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACD1647NM_001082486.2AD, AR
ANAPC15835NM_022662.4AR
ANKRD265133NM_014915.3AD
ATM9171NM_000051.4AR
BLM4254NM_000057.4AR
BRCA15592NM_007294.4AR
BRCA210257NM_000059.4AR
BRIP13750NM_032043.3AR
CBL2721NM_005188.4AD
CEBPA1077NM_004364.5AD
CTC13654NM_025099.6AR
DDX411935NM_016222.4AD
DKC11545NM_001363.5XLR
DNAJC212049NM_001012339.3AR
DOCK86300NM_203447.4AR
ELANE804NM_001972.4AD
ERCC42751NM_005236.3AR
ETV61359NM_001987.5Gen Fusion
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XLR, Sus
FANCC1677NM_000136.3AR, Sus
FANCE1611NM_021922.3AR, Sus
FANCF1125NM_022725.4AR, Sus
FANCG1869NM_004629.2Sus
FANCI3987NM_001113378.2AR, Sus
FANCL1128NM_018062.4AR, Sus
FANCM6147NM_020937.4AR, Sus
FAS1008NM_000043.6AD, Sus
GATA11242NM_002049.4XLR, Sus
GATA21443NM_032638.5AD, Sus
GBA11611NM_001005741.3AR, Sus
HAX1840NM_006118.4AR
IKZF11560NM_006060.6AD, Sus
ITK1863NM_005546.4AR
LIG42736NM_002312.3AR
MAD2L2683NM_001127325.2AR
MLH12271NM_000249.4n.k.
MSH22805NM_000251.3AD, Sus
MSH64083NM_000179.3AD, Sus
NAF11631NM_001128931.2AD
NBN2265NM_002485.5AR, Sus
NF18457NM_001042492.3AD
NHP2273NM_001034833.2AR
NOP10195NM_018648.4AR
PALB23561NM_024675.4AR, Sus
PARN1920NM_002582.4AD, AR
PAX51074NM_001280547.2AD
PMS22589NM_000535.7AR
PRF11668NM_001083116.3AR
PTPN111782NM_002834.5AD
RAD51C1131NM_058216.3Sus, AR
RECQL43628NM_004260.4AR
RMRP300NR_003051.3AR
RPL11537NM_000975.5AD
RPL15615NM_001253379.2AD
RPL23457NM_000978.4AD
RPL26438NM_000987.5AD
RPL27411NM_000988.5AD
RPL311143
  • No OMIM-Gs linked
NM_000993.5AD
RPL35A333NM_000996.4AD
RPL36318NM_015414.4AD
RPL5894NM_000969.5AD
RPS10498NM_001014.5AD
RPS15438NM_001018.5AD
RPS17408NM_001021.6AD
RPS24393NM_033022.4AD
RPS26348NM_001029.5AD
RPS27255NM_001030.6AD
RPS27A471NM_001135592.2AD
RPS28210NM_001031.5AD
RPS29204NM_001030001.4AD
RPS7585NM_001011.4AD
RTEL13732NM_032957.5AD, AR
RUNX11443NM_001754.5AD
SAMD9L4756NM_152703.5AD
SH2D1A378NM_001114937.3XLR
SLX45505NM_032444.4AR
STAT32313NM_139276.3AD
STN11221NM_024928.5AR
TERT3399NM_198253.3AD, AR
TINF21356NM_001099274.3AD
TP531182NM_000546.6AD
TSR2576NM_058163.3XLR
UBE2T594NM_014176.4AR
WAS1509NM_000377.3XL
WRAP531647NM_001143990.2AR
XRCC2843NM_005431.2AR

Informations about the disease

Clinical Comment

Myelodysplastic syndromes are a group of malignant blood + bone marrow disorders, stem cells do not mature increasing immature cells, blasts + dysplastic cells. Healthy mature cells in the blood decrease, fewer erythrocytes, white blood cells, platelets, causing anemia, neutropenia, thrombocytopenia. Numbers can be normal, but blood + bone marrow cells are still abnormal.

 

Synonyms
  • Allelic: Breast cancer, susceptibility to (RAD51)
  • Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, types 1, 2, 4, 5 (MSH2, MLH1, PMS2, MSH6)
  • Allelic: Immunodeficiency 21 (GATA2)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Mirror movements 2 (RAD51)
  • Allelic: Multiple myeloma, resistance to (LIG4)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Premature ovarian failure 15 (FANCM)
  • Allelic: Spermatogenic failure 28 (FANCM)
  • Allelic: Uveal melanoma, susceptibility to, 1 (MBD4)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Anauxetic dysplasia 1 (RMRP)
  • 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, type IA (FAS)
  • BM failure syndrome type AR [panelapp] (FANCM, NAF1)
  • BM failure syndrome, type AR [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
  • Baller-Gerold syndrome (RECQL4)
  • Bloom syndrome (BLM)
  • Bone marrow failure syndrome 2 (ERCC6L2)
  • Bone marrow failure syndrome 5 (TP53)
  • Cartilage-hair hypoplasia (RMRP)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Cerebroretinal microangiopathy with calcifications + cysts 2 (STN1)
  • 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 3 (RPS24)
  • 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] (RPL23, RPL31, RPL36, RPS15, RPS27A)
  • Dyskeratosis congenita [panelapp] (NAF1)
  • 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)
  • Emberger syndrome; primary lymphedema with myelodysplasia (GATA2)
  • Fanconi anemia, complementation group A-M (FANCA-FANCM)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group J (BRIP1)
  • 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 R (RAD51)
  • 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)
  • Head/neck + anogenital squamous cell, liver, esophagus CA; squamous c. CA: oral, GI, vulva (FANCB-M)
  • Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
  • Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
  • Hyper-IgE recurrent infection syndrome (STAT3)
  • Hyper-IgE recurrent infection syndrome, AR (DOCK8)
  • Juvenile myelomonocytic leukemia (CBL)
  • LEOPARD syndrome 1 (PTPN11)
  • 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, susceptibility to (GATA2)
  • Leukemia, juvenile myelomonocytic (NF1)
  • Li-Fraumeni syndrome (TP53)
  • Lymphoma, non-Hodgkin (PRF1)
  • Lymphoproliferative syndrome 1 (ITK)
  • Lymphoproliferative syndrome, XL, 1 (SH2D1A)
  • MDS, AML [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
  • Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
  • Monosomy 7 myelodysplasia and leukemia syndrome 1 (SMAD9L)
  • Muir-Torre syndrome (MLH1, MSH2)
  • Myelodysplastic syndrome, susceptibility to (GATA2)
  • Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, suscept. to (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)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome-like disorder with or without 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)
  • RAPADILINO syndrome (RECQL4)
  • Revesz syndrome (TINF2)
  • Rothmund-Thomson syndrome, type 1 (ANAPC1)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • 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)
  • Tumor predisposition syndrome 2 (MBD4)
  • Watson syndrome (NF1)
  • Wiskott-Aldrich syndrome (WAS)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • Sus
  • XL
  • XLR
  • n.k.
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.