Eurofins Biomnis code

LCT

Synonyms

• OMIM code : *603202/ #223000

Specialty

Genetics

Clinical significance

Lactose intolerance is due to a lack or absence of lactase, enzyme necessary for the degradation of lactose into glucose and galactose. Individuals carrying a polymorphism on the promoter of LCT gene encoding lactase show a more rapid decrease in the enzyme activity throughout their lives. Full Clinical significance Symptoms of primary lactose intolerance are multiple (bloating, intestinal cramps, diarrhea) and appear within minutes to hours after ingestion of products containing lactose. In extreme cases, atypical symptoms such as headaches, dermatitis or depression may be a sign of lactose intolerance. Method After the patient genomic DNA extraction, specific amplification by real-time PCR using TaqMan probes allows the detection of LCT-13910T> C polymorphism . Absence of mutation at a homozygous state (C/C) that allows to confirm a primary lactose intolerance diagnostic. On the contrary, the presence of a homozygous LCT-13910C>T mutation allows to exclude it.

Preanalytics

• 5 mL :
• Whole blood EDTA (only), do not use tubes containing beads.
•   Ambient temperature

• A tube specifically for this analysis : No

Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Enclose the specific B12-INTGB request form: Molecular Genetics

Documents to download

• Specific Request Form (B12-INTGB)

Methodology

kit LAMP Human Lactose Intolerance CE-IVD, Loop-mediated isothermal amplification

Turnaround time

1 month