In cases with limited neuromuscular findings, our Muscle and Nerve Laboratory helps improve diagnosis by finding abnormalities at a pathologic/microscopic level.  The Laboratory is dedicated to providing accurate and timely results to physicians ordering biopsies for diagnostic testing.

The Muscle and Nerve Laboratory accepts surgical specimens obtained elsewhere for processing and interpretation. Specimens are accepted Monday through Friday – skin biopsy kits and shipping services are provided at no charge. Muscle, nerve and skin biopsies are performed by specialists trained in neuromuscular pathology.

Muscle and Nerve Tissue in the Diagnosis of Neuromuscular Disease

The experienced staff of affiliated neuromuscular pathologists and histological technicians provides muscle, nerve and skin biopsies to patients who need further assessment, when clinical neuromuscular findings are limited. Following the biopsy, the team processes the specimen and interprets the results in the state-of-the-art laboratory.

The findings are sent directly to the patient’s physician for review. The commitment of the pathologists and research team, along with the skill of the laboratory technicians, provides outstanding service and accurate results to both referring physicians and patients.

Nerve Biopsy

Nerve biopsies are performed during laboratory work-up for several neuropathic conditions, including:

  • Inflammatory and demyelinating neuropathies
  • Vasculitic neuropathies
  • Amyloid neuropathies
  • Toxic neuropathies

The preferred technique for nerve biopsies is open biopsy under local anesthesia and most biopsies are taken at the sural nerve. Nerve biopsies allow for more accurate diagnoses, especially for patients with asymmetric neuropathic features. Preliminary reports for nerve biopsies are prepared within three working days of specimen submission.

Skin Biopsy

Skin biopsies are performed for the diagnosis of sensory neuropathy, which may lead to the detection of underlying disorders that cause injury to those nerve fibers. A punch biopsy is typically performed during this procedure. Autonomic innervation of sweat glands and hair follicles can also be assessed with this technique. For physicians wishing to perform the punch biopsy in their clinics, the laboratory team can provide training on the procedure as well as a skin biopsy kit so they can send specimens to the lab for testing.

Muscle Biopsy

Muscle biopsies are performed to evaluate the skeletal muscles for diagnosis and management of various neuromuscular disorders. Muscle disease may be associated with elevated CPK levels, muscle weakness, muscle atrophy and muscle pain with exercise. The biceps or quadriceps are often selected for sampling, but other muscles may be biopsied depending on symptoms. Local anesthesia is typically used for muscle biopsies.

Common conditions diagnosed with muscle biopsies include:

  • Muscular dystrophies (MD)
  • Metabolic and toxic myopathies
  • Mitochondrial myopathies
  • Inflammatory myopathies (including polymyositis, dermatomyositis, and inclusion body myositis)
  • Neurogenic atrophy (including motor neuron disorder and nerve disorder)

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