Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in TE buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. 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. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, Del/Dup analysis is designed to identify deletions or duplications which are two or more contiguous exons in size. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). 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. trinucletiodess or hexanucleotides), alternations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.
Call for details
81401x1, 81404x1, 81479x19
81401x1, 81402x1, 81479x19
Sequencing & Del/Dup
81401x1, 81402x1, 81404x1, 81479x38
NOTE: CPTs are based on the genes listed. Adding or removing genes will change the CPTs. In some cases, a CPT may require a specific list of genes while performing both sequencing and deldup to qualify. Fulgent bases the CPT for each Gene on multiple sources: CLAB2016v1, AMA Molecular Pathology Tier 2 Gene Designation Chart, and AMA CPT 2016. Call for more details.