Gene CHD7
Methodology Capillary electrophoresis
Clinical Utility Confirm or establish diagnosis
Identify disease-causing mutation in affected individual
Prenatal diagnosis
Diagnosis of at-risk family members
Treatment management
Disease surveillance
Clinical Sensitivity 60% – 65%
Analytic Sensitivity Substitutions: 100%
Turnaround Time 4-6 weeks
CPT Codes 81407
Specimen Whole blood drawn in lavender top (EDTA) tube in a volume of 3-5cc (Adults/Children) and 3 cc (infant <2 yrs).
Shipping Refrigerate sample until time of shipping. Ship sample at room temperature in an insulated container by overnight delivery.
Causes for Rejection Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container.
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