Variants will be classified into one of the following groups which will determine if follow up testing of family members is indicated:
Variant of uncertain significance (VOUS)
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.
Genetics - Molecular Pathology
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.
Please email the laboratory at firstname.lastname@example.org
This is a paper exercise whereby individual variants are curated according to current guidelines in order to determine their likely pathogenicity.
$320.15 (Exclusive of GST)
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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