©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHypocitraturia, differential diagnosis

Request form illness
Order shipping materials

Summary

Short information

Comprehensive differential diagnostic panel for Hypocitraturia comprising 4 curated genes according to the clinical signs

ID
HP9951
Number of loci
Loci typeCount
Gen4
Accredited laboratory test
Examined sequence length
6,9 kb (Core-/Core-canditate-Genes)
10,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATP6V0A42523NM_020632.3AR
ATP6V1B11542NM_001692.4AR
SLC4A12736NM_000342.4AD, AR
SLC4A23783NM_001199692.3n.k.

Informations about the disease

Clinical Comment

illness_ClinicalComment_HP9951

 

Synonyms
  • Distal renal tubular acidosis 1 (SLC4A1)
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
  • Distal renal tubular acidosis 3, with/-out sensorineural hearing loss (ATP6V0A4)
  • Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
  • Distal renal tubular acidosis, AR [genecards] (SLC4A2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined