skip navigation
A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMPST
Method

The c.-13907 C/T SNP is located 5’ to LCT which is located in intron 13 of the adjacent MCM6 helicase gene on chromosome 2. The 300bp amplicon is amplified by PCR and analysed by bi-directional automated fluorescent DNA Sequencing.

Diagnostic Use / Indications

Genetic hypolactasia is inherited as an autosomal recessive trait, and is present in ~8% of the NZ caucasian population. A high incidence of genetic hypolactasia is present in people of Pacific Island and/or Maori ethnicity.

This test can be used to eliminate or confirm a genetic cause for lactose sensitivity/intolerance.

Constituent TestsGenomic DNA Extraction ;
External PriceContact Canterbury Health Laboratories on +64 3 364 0484 or email Labinfo.
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
Interpretation

Genetic hypolactasia is inherited as an autosomal recessive trait, and is present in some 8% of the NZ caucasian population. The report provided to physicians is sufficiently detailed as to allow clarification of the results provided.

Uncertainty of Measurement

Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number7302

CHL Follow us on Facebook