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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