Whole Genome

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

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Whole Genome sequencing is designed to examine noncoding and coding regions of clinical relevant genes and regions. Family history and clinical information is required for all Whole Genome orders. Your patient’s clinical notes are reviewed by our curation team and used to generate the most comprehensive gene list and personalized analysis for your patient. Trio analysis is strongly recommended, and focuses on the proband of a familial trio (proband and parents). This test provides ~30x genome-wide backbone coverage and includes CNVgenome analysis for copy number variants (see above).

To avoid any delays, please reach out to our genetic counselors to determine if this test is appropriate for your patient prior to ordering

Test Description

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  • Sequencing (included)
  • Rush /STAT
5 - 8 weeks
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Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in TE buffer) or Buccal Swab or Saliva (kits available upon request)
Whole Genome is a phenotype-driven test for a single individual (proband only). Family history and clinical information is required for all Whole Genome orders. Incidental or secondary findings which do not match the phenotype are not regularly reported. All sequencing technologies have limitations. This analysis is designed to examine noncoding and coding regions. Although 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. This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions and most repeat expansions (eg. trinucleotides or hexanucleotides). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

[[GENE_LIMITATIONS]]
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CPT Code 81229, 81415

DISCLAIMER:  CPT codes used to file medical claims to insurance companies are payer contract dependent. Please consult with your specific insurance company to determine the CPT codes to use for this panel. The CPT codes listed for the panel are the AMA codes for the genes in the panel only, they do not necessarily represent the codes which should be used to file with specific payer contracts for your organization. Different payers have slightly different CPT codes arrangements for each billable panel.

NOTE:  The CPT codes list on the website for our panels is just a list of CPT codes for the genes contained within. They are NOT the CPT codes we use to bill insurance companies. These are provided so customers can decide what to use when they bill their insurance company. If Fulgent is billing insurance directly, our policy for All-in-one and Whole-in-one is to bill the panel code(s) only.

Resources

Gene Descriptions

GeneReasonReference

Appendix