Deutsch
IllnessMyelofibrosis, primary; hereditary
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion primary myelofibrosis
ID
MS0792
Number of genes
1
Accredited laboratory test
Examined sequence length
2,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| MPL | 1908 | NM_005373.3 | SMu |
Informations about the disease
Clinical Comment
Dysregulated JAK2-STAT5 signaling pathway. Major criteria: megakaryocytic proliferation, presence of reticulin and/or collagen fibrosis. Absence of other sign of blood and bone marrow cells proliferation and tumour (WHO classification). Mutations in JAK2, CALR or MPL. Minor criteria: blood test for anemia, Leukocytosis, LDH level, Leukoerythroblastosis
Synonyms
- Allelic: Thrombocythemia 2 (MPL)
- Allelic: Thrombocytopenia, congenital amegakaryocytic (MPL)
- Myelofibrosis with myeloid metaplasia, somatic (MPL)
Heredity, heredity patterns etc.
- SMu
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined