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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessHypocitraturia, differential diagnosis

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Summary

Short information

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

ID
HP9951
Number of genes
4 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
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ATP6V0A42523AR
ATP6V1B11542AR
SLC4A12736AD, AR
SLC4A23783AR

Informations about the disease

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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
N25.8

Bioinformatics and clinical interpretation

No text defined