Frax E Mental Retardation Syndrome

OHSU Service Code:

102-8842

Lab Section:

Molecular Diagnostic Center

Test Schedule:

As requested with two week result turn around.

Specimen
Requirements:

6.0 mL whole blood in EDTA vacutainer tube.
Click here for requistion slips.

Reference Range:

Measurement of trinucleotide repeat number in Exon 1 of the Frax E gene at Xq 28.

PHENOTYPE                                 # of GCC REPEATS

Normal                                    <=30

Indeterminate                             31-60

Premutation                               61-200

Affected                                  >200

Interpretation:

Testing is diagnostic for normal, carrier, and disease states.