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Whole Genome

Genes:

Call for Details



CPT Codes:

CPT Codes**
Seq81229x1, 81415x1
Del/Dup81229x1, 81415x1
Seq & Del/Dup81229x1, 81415x1
* CPTs listed under CLAB2016 can be found on CMS.gov Fee Schedule released in January 2016. (Reference: https://www.cms.gov/Medicare/Medicare-Fee-for-Service-Payment/ClinicalLabFeeSched/Clinical-Laboratory-Fee-Schedule-Files.html, Alternative: http://fulgentgenetics.com/public/cptdocs/CLAB2016v1.xls)
** 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.

Specimen Requirements:

Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in TE buffer) or Buccal Swab or Saliva (kits available upon request). See How to Order for more details.

Additional Details:

CLINICAL INFORMATION IS REQUIRED FOR THIS TEST.


Test Limitations:

Whole Genome is a phenotype-driven test for a single individual (proband only). Family history and clinical information is required for all Whole Exome orders. Incidental or secondary findings which do not match the phenotype are not regularly reported. 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, most repeat expansions (eg. trinucleodes or hexanucleodes), alternations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). If performed, repeat expansion analysis may not elicit the precise number of repeats present in large expansions. This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.