Test directory: Fragile X Test (Symptomatic/Family)

Ordering Code 4126
Test Name Fragile X Test (Symptomatic/Family)
Alias Martin-Bell Syndrome
Fragile X Syndrome, Diagnostic
Preferred Specimen Whole Blood
Preferred Container EDTA, K2 (Lavender) or ACD-B (Yellow)
Optimum Volume 10 mL
Handling Instructions Maintain specimen at room temperature.
Transport Requirements Oahu: Ambient
Airline: Ambient
Specimen Stability Ambient: 21 Days
Refrigerated: Not Stable
Frozen: Not Stable
Rejection Criteria Frozen, Hemolysis, Insufficient quantity
Avail. Stat NO
Analytic Time 14 Days (when culture is required, +20 days)
Methodology Polymerase chain reaction (PCR) followed by capillary electrophoresis, methylation PCR analysis, and reflex to
AGG interruption analysis when appropriate.
Reference Lab  Esoterix Genetic Laboratories, LLC
Insurance Pre-Authorization  HAWAII MEDICAL SERVICE ASSOCIATION

Reference range(s)

The reference ranges listed below are valid on this date of June 29, 2025.
Component Age Male Norm Male Critical Low Male Critical High Female Norm Female Critical High Female Critical Low Units Add'l info
Fragile X Test ALL See report.