Fragile X Syndrome Mutation

Molecular

81401

Test for Fragile X syndrome, the most common cause of inherited mental disability. The test uses a polymerase chain reaction (PCR) methodology, followed by electrophoresis and Southern blot analysis performed on all samples concurrently.

• Bone marrow aspirate: 1-2 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
• Peripheral blood: 5-10 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
• Fresh Tissue: Minimum of 250 mg tissue in RPMI transport media
• Formalin-Fixed Paraffin-Embedded Tissue: 1 H&E slide cut to 4 microns and 6-8 slides cut at 8 microns of BM clot or tissue fixed with 10% NBF fixative on non-charged slides. Please circle tumor for microdissection. Alternatively, the FFPE clock of the BM clot can be sent for sectioning in our lab.

Ship specimen the same day whenever possible, with refrigerated (not frozen) cold pack.

Label all tubes with at least two unique patient identifiers. Slides require one patient identifier. Identifiers include name, DOB, specimen ID# or medical record#.

5 - 7 days

Global