Specimen:

Whole Blood

Collection Medium:

Minimum:

Adult minimum: 3 mL whole blood in lavender top tube (EDTA)
Children minimum: 2 mL whole blood in lavender top tube (EDTA)
Testing on smaller volumes than those requested will be attempted.  
However, in some cases, small blood volumes may compromise the ability 
to perform testing.
Testing requires a dedicated collection tube.

Testing
Schedule:

Weekly

Analytic Time:

21 days

Reference Range:

Normal: < or = to 44 CGG repeats
Indeterminate:  45-55 CGG repeats
Pre mutation (carrier):  56-199 CGG repeats
Full mutation (affected):  > or = to 200 CGG repeats

Comments:

Send blood at room temperature.

Methodology:

Polymerase Chain Reaction (PCR) and Southern Blot

Sample
Processing:

Do Not Centrifuge.
Label transport tube with two patient identifiers, date and time of 
collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order 
to provide correct interpretation of test results.
Submit whole blood in original container.

Sample
Storage:

Room temperature for up to 24 hours, then refrigerate the whole blood 
if it is necessary to be held overnight, or weekends, or holidays.

Transport
Instructions:

Recommend express mail or equivalent if not on courier service.
Place requisition into outside pocket of bag.
Ship at ambient temperature.

CPT Code:

83890, 83892 (x2), 83894 (x2), 83896, 83897, 83898, 83912

See Additional Information:
Fragile X Syndrome Information