Fragile X Syndrome

Test ID: ZH462

CPT code: 81243
LOINC:
Specimen Type: Whole Blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Frequency: 8-14 days
Instructions: 8.5 ml whole blood from a Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes, or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit. Ambient
Text: Carrier screening for fragile X syndrome. FMR1
Methodology: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples

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