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

IllnessParoxysmal nocturnal haemoglobinuria 2

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion paroxysmal nocturnal Hemoglobinuria 2

ID
PS0391
Number of genes
1 Accredited laboratory test
Examined sequence length
1,8 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
PIGT1737NM_015937.6AD, SMu

Informations about the disease

Clinical Comment

Clinical signs see Paroxysmal nocturnal hemoglobinuria 1

 

Synonyms
  • Abbreviation: PNH2
  • Allelic: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
  • Paroxysmal nocturnal hemoglobinuria, somatic (PIGT)
Heredity, heredity patterns etc.
  • AD
  • SMu
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined