Deutsch
IllnessErythrocytosis, familial hereditary; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Erythrocytosis, familial, comprising 8 core candidate genes and altogether 18 curated genes according to the clinical signs
ID
EP7799
Number of genes
12
Accredited laboratory test
Examined sequence length
8,0 kb (Core-/Core-canditate-Genes)
19,9 kb (Extended panel: incl. additional genes)
19,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| EGLN1 | 1281 | NM_022051.3 | AD | |
| EPAS1 | 2613 | NM_001430.5 | AD | |
| EPO | 582 | NM_000799.4 | AD | |
| EPOR | 1527 | NM_000121.4 | AD | |
| HBA1 | 429 | NM_000558.5 | AD | |
| HBA2 | 429 | NM_000517.6 | AD | |
| HBB | 444 | NM_000518.5 | AD | |
| VHL | 642 | NM_000551.4 | AR | |
| BPGM | 780 | NM_199186.3 | AD, AR | |
| JAK2 | 3399 | NM_004972.4 | AD | |
| SH2B3 | 1728 | NM_005475.3 | n.k. | |
| TET2 | 6009 | NM_001127208.3 | n.k. |
Informations about the disease
Clinical Comment
Myeloproliferative disorder with elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production
Synonyms
- Alias: Primary familial and congenital polycythemia
- Alias: Primary familial polycythemia, ORPHANET
- Allelic: Bohring-Opitz syndrome (ASXL1)
- Allelic: Dehydrated hereditary stomatocytosis +/- pseudohyperkalemia +/- perinatal edema (PIEZO1)
- Allelic: Delta-beta thalassemia; Heinz body anemia; Hereditary persistence of fetal hemoglobin (HBB)
- Allelic: Hemangioblastoma, cerebellar, somatic; Pheochromocytoma (VHL)
- Allelic: Hypermanganesemia with dystonia 1 (SLC30A10)
- Allelic: Myelodysplastic syndrome, somatic (ASXL1)
- Allelic: Myelofibrosis, somatic (CALR1)
- Allelic: Polycythemia rubra vera, somatic (JAK2, NFE2, TET2)
- Allelic: Renal cell carcinoma, somatic; von Hippel-Lindau syndrome (VHL)
- Allelic: Thrombocythemia, somatic (CALR1)
- Dystonia/Parkinsonism, hypermanganesemia, polycythemia, chronic liver disease [panelapp] (SLC30A1)
- Erythrocytosis, 6 (HBB)
- Erythrocytosis, familial, 1 (EPOR)
- Erythrocytosis, familial, 2 (VHL)
- Erythrocytosis, familial, 3 (EGLN1)
- Erythrocytosis, familial, 5 (EPO)
- Erythrocytosis, familial, 6 (EPAS),
- Erythrocytosis, familial, 7 (HBA1, HBA2)
- Erythrocytosis, familial, 8 (BPGM)
- Erythrocytosis, somatic (JAK2, SH2B3)
- Lymphatic malformation 6 (PIEZO1)
- Methmoglobinemia, ß type; Sickle cell anemia; Thalassemia-ß; AD inclusion-body Thalassemia, ß (HBB)
- Thrombocythemia 2 (MPL)
- Thrombocytopenia, congenital amegakaryocytic (MPL)
Heredity, heredity patterns etc.
- AD
- AR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined