Test Code LAB8635 Targeted Known Variants Analysis

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 testing may be offered free of charge as outlined in the “No Charge Family Testing, VUS, and Germline Resolution Policy”. This assay is not intended for detection of CNV or fusion events.

Special Collection Notes

Collect specimen according to standard operating procedure.

Specimen Type

-Whole Blood:

Purple Top Tube-EDTA

-Mouth:

Buccal Swab

Specimen Volume

Whole Blood
Preferred: 4.0 mL
Minimum: 0.5 mL

Processing Instructions

Store and ship ambient. If transport is longer than 4 hours send refrigerated on cold pack.

NOTE: Samples should be received within 72 hours of collection if possible – maximum 5 days. Our recommendation is to use FedEx or UPS for shipping and obtain a tracking number to ensure safe delivery. Samples that are received on a Friday afternoon, Saturday, Sunday or before a major holiday will not be processed until the next business day. If samples need to be stored in your laboratory prior to shipping, they should be stored at room temperature or refrigerate until you send; do not freeze. Local couriers may be used to deliver specimens within the Denver metropolitan area.

Temperature

Ambient/Refrigerated