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)
8,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
RPL11 | 537 | NM_000975.5 | AD | |
RPL15 | 615 | NM_001253379.2 | AD | |
RPL18 | 578 | NM_000979.4 | AD | |
RPL26 | 438 | NM_000987.5 | AD | |
RPL27 | 411 | NM_000988.5 | AD | |
RPL35A | 333 | NM_000996.4 | AD | |
RPL5 | 894 | NM_000969.5 | AD | |
RPS10 | 498 | NM_001014.5 | AD | |
RPS15A | 504 | NM_001019.5 | AD | |
RPS17 | 408 | NM_001021.6 | AD | |
RPS24 | 393 | NM_033022.4 | AD | |
RPS26 | 348 | NM_001029.5 | AD | |
RPS27 | 255 | NM_001030.6 | AD | |
RPS28 | 210 | NM_001031.5 | AD | |
RPS29 | 204 | NM_001030001.4 | AD | |
RPS7 | 585 | NM_001011.4 | AD | |
TSR2 | 576 | NM_058163.3 | XLR | |
RPL35 | 446 | NM_007209.4 | AD |
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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