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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessChediak-Higashi syndrome

Request form illness

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LYST11406NM_000081.4AR

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

Bioinformatics and clinical interpretation

No text defined