Whole Genome Sequencing
Collection Restrictions
Testing is only offered for CMH patients at this time
Requires consent obtained by a genetic counselor
Collection Requirements
Source: blood
Container: EDTA lavender
Volume:
- Preferred: 3 mL in vacutainer
- Minimum: 1 mL in vacutainer
Source: buccal/saliva
Container: OraCollect Kit
Turn Around Time
90 days
Availability
Routine
Lab Processing Instructions
Specimen: whole blood
Room temperature or refrigerate
Specimen: buccal/saliva
Room temperature
Performing Laboratory
Adele Hall
Adele Hall Lab Section
Molecular Genetics
Instrumentation/Methodology
Next Generation Sequencing
Additional Information
Detect sequence variants in known disease genes that could potentially explain the patient’s symptoms; it may or may not include incidental findings depending on ordering provider
Reference Ranges
A single report will be issued under the child’s name
CPT
81425