Additional Assay Information

Germline NGS panel: NGS gene panel order covers a neurodevelopmental disease (NDD) exome-based panel and a connective tissue disorder (CTD) panel. Please provide a new order request to the CGAT laboratory if add-on testing is requested.

CTD v1.0 gene list as of Nov 2022  see link https://one-dh.testcatalog.org/catalogs/565/files/13842

NDD v1.0 gene list as of Nov 2022, see link https://one-dh.testcatalog.org/catalogs/565/files/13841

Germline exome - Proband: Germline proband exome option (ie: Singleton analysis) can be used if biological parents are not available. 

Germline exome - Family Member only: Exome family member option is to be used when biological parents (ie: Trio analysis) are requested. This lab order is to be filled out so that parents or family members can be tracked and linked to the proband order.
 

Germline Familial Variant Testing: Currently this is being offered for targeted variant testing for parents or siblings for pathogenic, likely pathogenic variants, and variants of uncertain significance. 

Please note that familial variant testing will generally not be recommended with respect to following scenarios

•    Variant is in a preliminary evidence gene, gene-disease relationship is weak, limited evidence
•    A variant is detected in a single gene (e.g. VOUS) with an AR phenotype and no second hit can be detected or resolved for phase
•    The minor allele frequency of the variant is high with respect to the incidence of the disease/phenotype