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Test Code LAB8635 Targeted Known Variants Familial Analysis-Germline

Aliases

Germline testing

Special Collection Notes

Collect specimen according to standard operating procedure

Specimen Type

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

Specimen Volume

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

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

TAT

3 weeks

Method

Sanger Sequencing

CPT

Varies

Performing Section

PRECISION DIAGNOSTICS

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