Test Description

Dystrophin Analysis, Muscle (By Immunohistochemistry)

Fresh (unfixed) skeletal muscle tissue obtained by open biopsy. The muscle chosen should be involved by disease, but not "end-stage." Proximal muscles (e.g., quadriceps femoris, deltoid, or biceps) are best for evaluation of most suspected myopathies. The muscle chosen should not have been subjected to prior trauma (e.g., EMG needle sites, injection sites).To gain the greatest amount of information from the biopsy, it should also be evaluated by routine morphological and enzyme histochemical analysis (see separate listing for MUSCLE BIOPSY AND ENZYME HISTOCHEMISTRY).

Collect one or two samples, 1x1x1cm each, place in saline-moistened gauze pads, then place in a sealed specimen container, which in turn is placed in ice (not dry ice). Label container with the patient's name, medical record number or your surgical pathology accession number, and the biopsy site. A completed Neuropathology Requisition including patient demographic information, relevant clinical and laboratory test information, and clinician contact information must be submitted with the specimen. Have the specimen transported to the laboratory within 2 hours. If anticipated transport time will exceed 2 hours, or if the specimen cannot be delivered by 3:00 p.m. on a weekday, call the Neuropathology Laboratory for instructions.

Optionally a protocol can be provided for freezing specimens at a remote site prior to transport to the Neuromuscular Pathology Laboratory by an appropriate carrier (e.g., Federal Express); however, freezing muscle tissue for morphological analysis by those unfamiliar with the technique is likely to introduce artifacts, and is not desirable unless absolutely necessary. A muscle biopsy kit that includes containers, gauze, saline, fixative, a sterile Rayport biopsy clamp, a Neuropathology Requisition, biopsy instructions, and a transport container is available upon request from the laboratory. Call in advance to request a kit, preferably 24 hours in advance. Referral to a UT Southwestern surgeon experienced in muscle biopsy technique can be provided upon request. Call the Neuropathology Division for referral (see Contact information, below).