Deutsch
IllnessLeukemia, chronic neutrophilic, hereditary: differential diagnosis
Summary
Short information
A curated panel containing 1 gene for the comprehensive analysis of the genetic susceptibility or the observed mutations, respectively, in chronic neutrophil leukemia
ID
LP9950
Number of genes
1
Accredited laboratory test
Examined sequence length
2,6 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 +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CSF3R | 2511 | NM_000760.4 | AR |
Informations about the disease
Clinical Comment
Persistent neutrophilia in peripheral blood, myeloid hyperplasia in bone marrow, hepatosplenomegaly, (absence of Philadelphia chromosome + BCR/ABL fusion gene)
Synonyms
- Alias: Chronic myeloproliferation
- Alias: Chronic neutrophilic leukemia
- Allelic: Myelodysplastic syndrome, somatic (ASXL1)
- Allelic: Bohring-Opitz syndrome (ASXL1)
- Allelic: Mental retardation, AD 29 (SETBP1)
- Allelic: Myelodysplastic syndrome, somatic (TET2)
- Allelic: Neutropenia, severe congenital, 7, AR (CSF3R)
- Allelic: Schinzel-Giedion midface retraction syndrome (SETBP1)
- Neutrophilia, hereditary (CSF3R)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined