Indications For Expanded Carrier Screening
Identification of carriers for autosomal recessive diseases
Specimen Requirements
Minimum 10cc whole blood
Specimen Container
Lavender-top tube (EDTA) or yellow-top tube (ACD-A)
Label tube with patient’s name and date of birth. A completed test requisition form must be included with every sample. A transport kit is available upon request.
Methodology
Next-generation sequencing technology
Transport Temperature
Room temperature (DO NOT freeze or centrifuge)
Causes for Rejection
Frozen specimen, clotted or hemolyzed, inappropriate container
Turnaround Time
10-14 days