IllnessLactose intolerance, primary
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)
- (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
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
LCT | 5784 | AR |
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
E73.-
Bioinformatics and clinical interpretation
No text defined