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Test Code LAB8635 Targeted Known Variants Familial Analysis-Germline

Aliases

Germline testing

Purpose/Principle

The CHCO targeted known familial analysis utilizes sanger sequencing to test family members for variants identified through next generation sequencing in the proband that are sequence-based single nucleotide variants (SNV) or small indels and within the nuclear genome. This assay is not intended for detection of CNV or fusion events

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

Special Collection Notes

Collect specimen according to standard operating procedure

TAT

3 weeks

Method

Sanger Sequencing

Additional Notes

The CHCO targeted known familial analysis utilizes sanger sequencing to test family members for variants identified through next generation sequencing in the proband that are sequence-based single nucleotide variants (SNV) or small indels and within the nuclear genome. This assay is not intended for detection of CNV or fusion events

CPT

Varies