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

IllnessLactose intolerance, primary

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Lactose intolerance, primary

ID
LS0070
Number of genes
1 Accredited laboratory test
Examined sequence length
5,8 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + SNP

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LCT5784NM_002299.4AR

Informations about the disease

Clinical Comment

Severe gastrointestinal disorder in newborns primarily in Finland, clinically watery diarrhea on feeding with breast-milk or lactose-containing formula

 

Synonyms
  • Alias: Alactasia
  • Alias: Congenital lactase deficiency
  • Alias: Lactase deficiency, congenital
  • Alias: Laktase-Defizienz, kongenital
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined