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Klinische FragestellungDiamond-Blackfan Anämie, aplastische; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches Panel für Diamond-Blackfan- Anämie, aplastische mit 2 "core"-Genen, 16 "core candidate"-Genen bzw. insgesamt 48 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
DP3030
Anzahl Gene
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,8 kb (Core-/Core-canditate-Gene)
8,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
RPL11537NM_000975.5AD
RPL15615NM_001253379.2AD
RPL18578NM_000979.4AD
RPL26438NM_000987.5AD
RPL27411NM_000988.5AD
RPL35A333NM_000996.4AD
RPL5894NM_000969.5AD
RPS10498NM_001014.5AD
RPS15A504NM_001019.5AD
RPS17408NM_001021.6AD
RPS24393NM_033022.4AD
RPS26348NM_001029.5AD
RPS27255NM_001030.6AD
RPS28210NM_001031.5AD
RPS29204NM_001030001.4AD
RPS7585NM_001011.4AD
TSR2576NM_058163.3XLR
RPL35446NM_007209.4AD

Infos zur Erkrankung

Synonyme
  • Alias: Aase-Smith-Syndrom II Aase-Syndrom
  • Alias: Anämie, hypoplastische, kongenitale, Typ Blackfan-Diamond
  • Alias: Aplasie der roten Blutkörperchen, angeborene
  • Alias: Aplastische Anämie, isolierte kongenitale
  • Alias: Diamond-Blackfan Syndrom
  • Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: Erythrocytosis, familial, 5 (EPO)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Microvascular complications of diabetes 2 (EPO)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Wilms tumor (BRCA2)
  • Anauxetic dysplasia 1 (RMRP)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Aplastic anemia, susceptibility to (SBDS)
  • Bone marrow failure syndrome 3 (DNAJC21)
  • Bone marrow failure syndrome 4 (MYSM1)
  • Cartilage-hair hypoplasia (RMRP)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • 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 dysostosi (TSR2)
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
  • Diamond-Blackfan anemia 16 (RPL27)
  • Diamond-Blackfan anemia 18 (RPL18)
  • Diamond-Blackfan anemia 19 (RPL35)
  • Diamond-Blackfan anemia 20 (RPS15A)
  • 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 (RPS57)
  • Diamond-Blackfan anemia 9 (RPS10)
  • Diamond-Blackfan anemia-like (EPO)
  • Dyskeratosis congenita, AD 2 (TERT)
  • Dyskeratosis congenita, AD 4 (RTEL1)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AD(TINF2)
  • Dyskeratosis congenita, AR 1 (NOP10)
  • Dyskeratosis congenita, AR 2 (NNHP2)
  • 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... (FANCA, -B, -C, -D2, -E, -F, -G, -I)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group S (BRCA1)
  • Leukemia, acute myeloid (TERT)
  • Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Neutropenia, severe congenital, 8, AD (SRP54)
  • 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)
  • Revesz syndrome (TINF2)
  • Severe combined immunodef., microceph., growth retard., sensitivity ionizing radiation (NHEJ1)
  • Shwachman-Diamond syndrome (SBDS)
  • Shwachman-Diamond syndrome 2 (EFL1)
  • Sneddon syndrome (ADA2)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Vasculitis, autoinflammation, immunodeficiency + hematologic defects syndrome (ADA2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D64.4

Bioinformatik und klinische Interpretation

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