Variant curation

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Turnaround Time

4 weeks

Specimen Type

• N/A

Specimen Requirements

Tube/Container Type:

Preferred

• N/A

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.

Additional Specimen Information

Please email the laboratory at genelab.test@cdhb.health.nz

Aliquot Instructions

Test Method

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

Non-Funded Test Cost

$320.15 (Exclusive of GST)

Billing Code

9969

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.

Contact Information

Enquiry Form