trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). fetal overgrowth syndromes and to evaluate the diagnostic efficacy of prenatal ultrasound. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only) single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses.

This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions.

All sequencing technologies have limitations.

Overgrowth syndrome