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Test Code LAB7981 Single Gene Sequencing Analysis

Aliases

Germline testing

Performing Section

PRECISION DIAGNOSTICS

Specimen Type

Whole Blood/Purple Top Tube (K2 EDTA) or Buccal Swab.  

Specimen Volume

  • Optimal Volume: 4.0 ml
  • Minimum Volume: 0.5 ml

TAT

3 weeks

CPT

Varies

Special Collection Notes

Collect specimen according to standard operating procedure

Additional Notes

The assay interrogates the coding regions and flanking intronic bases of the cited gene, with the capacity to detect single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs). Uniform genomic coverage is achieved through standardized specimen processing and short-read sequencing. Sequencing data are monitored by quality control metrics to ensure high confidence in the accuracy and specificity of the variant calls. The CNV resolution threshold is approximately 1 Mb, although smaller events may be detected depending on regional complexity and data quality.

Method

Next Generation Sequencing

Purpose/Principle

The CHCO Single Gene Sequence Analysis utilizes next-generation sequencing technology to detect germline variants in the requested single gene. The assay interrogates the coding regions and flanking intronic bases of the cited gene, with the capacity to detect single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs). Uniform genomic coverage is achieved through standardized specimen processing and short-read sequencing. Sequencing data are monitored by quality control metrics to ensure high confidence in the accuracy and specificity of the variant calls. The CNV resolution threshold is approximately 1 Mb, although smaller events may be detected depending on regional complexity and data quality.