Deutsch
IllnessChediak-Higashi syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Chédiak-Higashi disease
ID
CS0280
Number of genes
1
Accredited laboratory test
Examined sequence length
11,5 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 | Heredity |
|---|---|---|---|
| LYST | 11406 | AR |
Informations about the disease
Clinical Comment
Partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction, lymphoproliferative disorder. Classic, early-/attenuated, later-onset form (atypical)
Synonyms
- Alias: Chédiak-Higashi disease (LYST)
- Alias: Chédiak-Higashi-Steinbrink syndrome (LYST)
- Decreased pigmentation of hair + eyes, photophobia, nystagmus (LYST)
- Large eosinophilic, peroxidase inclusion myeloblasts + promyelocytes bone marrow (LYST)
- Neutropenia, abnormal susceptibility to infection + peculiar malignant lymphoma (LYST)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
E77.0
Bioinformatics and clinical interpretation
No text defined