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

IllnessHaemolytic anaemia, non-sphaerocytic

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Haemolytic anaemia, non-sphaerocytic

ID
HS4400
Number of genes
1 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-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

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GPI1677NM_000175.5AR

Informations about the disease

Clinical Comment

Glucosephosphate isomerase deficiency as erythroenzymopathy with chronic nonspherocytic hemolytic anemia

 

Synonyms
  • Alias: Glukosephosphat-Isomerase-Defizienz (GPI)
  • Alias: Hemolytic anemia due to glucophosphate isomerase deficiency (GPI)
  • Alias: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (GPI)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined