Neuromuscular pathology services offers expert on-site muscle and nerve biopsy interpretation and consultation to physicians in the diagnosis of a wide variety of neuromuscular disorders. We routinely process biopsy samples from the Cincinnati Children's community, and we also welcome specimens obtained at other hospitals / surgical facilities referred to our laboratory for staining and interpretation and / or ultrastructural analysis. Slides from previously prepared samples (specimens that were obtained and processed elsewhere) may likewise be referred for consultation or second opinion.
Helpful in diagnosis of:
- CIDP and other demyelinating diseases
- Hereditary neuropathies
- Other: sarcoidosis, leprosy, toxic neuropathies
- Routine nerve histologic examination and histochemical studies (standard panel: H&E, LFB/PAS, neurofilament, CD68)
- Special studied: additional histochemical and immunohistochemical studied are utilized as indicated (e.g. Congo red, T and B cell markers, etc.)
- We routinely process a small portion of each nerve biopsy for electron microscopy (EM) and nerve tease preparation.
Helpful in diagnosis of:
- Inflammatory myopathies (polymyositis, dermatomyositis, inclusion body myositis)
- Muscular dystrophies
- Metabolic myopathies
- Mitochondrial myopathies
- Amyloid myopathy
- Congenital myopathies
- Infectious / parasitic myopathies
- Routine muscle histologic examination and histochemical studied (standard panel: H&E, Gomori trichrome, NADH, ATPase at low and high pH, PAS, Oil red O, SDH, (OX))
- Special studies:
- Additional histochemical stains as indicated: Congo red, myophosphorylase, myoadenylate deaminase
- Immunohistochemical staining is available for workup myositis (MHC class I and II, CD3, CD20, CS45, and immunofluorescent studied as needed) and various muscular dystrophies (Dystrophin N and C- terminals and rod domain), Utrophin, Calseolin 3, Sarcoglycans (alpha, beta, delta, and gamma), Dysferlin, Merosin, laminins, A/C, alpha – dystroglycan, collagen VI, and Emerin.
- We routinely fix a small portion of each muscle biopsy in glutaraldehyde in the event electron microscopy (EM) is necessary.
We will freeze and hold a portion of muscle biopsy at negative 80° C not used for other diagnostic purposes in case additional special biochemical or molecular studies by outside reference laboratory testing, however the submitting clinician is responsible for supplying sufficient muscle sample and billing information, as well as completing any necessary requisition forms.
Specimen Handling for Muscle and Nerve Biopsies
- A surgical pathology accession sheet with adequate clinical history and differential diagnosis must accompany specimen for proper interpretation.
- Advance notice is crucial for proper shipment and processing: please notify Cincinnati Children’s Hospital Pathology Department at 513-636-4261 that a biopsy specimen will be arriving.
- Muscle and nerve specimens should be delivered as soon as possible following removal. Specimens should be wrapped in saline-soaked gauze, placed in a sterile container, and transported on ice. Under no circumstances should specimens be immersed in saline or fixative / formalin. In-house and local specimens should be hand delivered or couriered the same day as removal. Wet tissue submitted from distant locales should be sent on ice by overnight services.