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

Test Identifier Information

 
Registration CodeMOLP
Method

This is a paper excercise whereby individual variants are curated according to current guidelines in order to determine their likely pathogenicity.  

 

Diagnostic Use / Indications

Variants will be classified into one of the following groups which will determine if follow up testing of family members is indicated:

Pathogenic

Likely Pathogenic

Variant of uncertain significance (VOUS)

Likely Benign

Benign

Curation of variants invloves a review of all existing literature and cases reported to date and therefore regular re-curation of variants may be required.

External Price$298.88(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

Mutation analysis of the target gene should have been previously performed and a mutation(s) identified (this is often at an overseas/research lab, and may be by an NGS panel/exome sequencing).

Required Mutation Information: 

Mutation information must be provided to CHL in advance, in the form of a lab report, or other communication from the laboratory in which the mutation was previously observed. 

To clearly identify nuclear gene mutations, please provide: 

  1. The name of the gene 
  2. The mutation in cDNA-level notation (e.g. residue c.123 G to T, where c.1 is the A of the initiator ATG) 
  3. One of the following: (a) the mutation given in protein-level notation, (b) the mutation given in gDNA-level notation, with reference to a specific public reference sequence, (c) a DNA sequence at least 30 bases long with the mutated base and mutation indicated.
  4. Mode of inheritance. Autosomal recessive, autosomal dominant, X-linked recessive and X-linked dominant may all be tested using this approach. 
Patient SpecimenNot Applicable
Sample Delivery to LabPlease email the laboratory at genelab.test@cdhb.health.nz
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test AvailabilityMon-Fri 8am-5pm
Turnaround Time28 days
Additional Information

Curation of variants involves a review of all existing literature and cases reported to date and therefore regular re-curation of variants may be required.

It is our policy to review the curation of all variants of uncertain significance we have identified every 2 years. However, we are happy to review a variant sooner if specifically requested.


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