URMC Labs - Clinical Laboratory Services

Neuropathology

The Neuropathology Laboratory is part of a neuroscience center that is nationally recognized for its neurological expertise, neurosurgical care and neuroscience research. The neuropathology faculty, which includes several internationally recognized clinicians and scientists, has expertise in numerous aspects of neurosurgical, muscle and autopsy pathology.

Our neuropathologists are supported by three laboratories: the neuromuscular laboratory, the neurohistology/immunohistochemistry laboratory, and the molecular genetics laboratory. These facilities provide state-of-the-art analysis of challenging neurosurgical, neuromuscular and autopsy cases.

Neurosurgical Pathology

We combine our expertise in neurosurgical pathology with support from an array of histological, immunohistochemical and molecular genetic techniques. This combination provides a wide variety of capabilities for evaluating challenging neurosurgical cases.

These include the following:

  • Differentiating low-grade glial neoplasms such as dysembryoplastic neuroepithelial tumors (DNTs) from oligodendrogliomas or reactive gliosis.
  • Differentiating small cell glioblastomas from anaplastic oligoastrocytomas and oligodendrogliomas.
  • Differentiating pleomorphic xanthoastrocytomas (PXA) from PXA with anaplastic features or glioblastomas.
  • Differentiating gangliogliomas from other low grade gliomas with ganglion cells.
  • Identifying papillary glioneuronal and rosette forming glioneuronal tumors.
  • Differentiating PML from HIV leukoencephalopathy or toxoplasma encephalitis.
  • Differentiating tumefactive multiple sclerosis or related demyelinating diseases from glial neoplasms or infarctions.
  • Classifying and grading meningiomas.
  • Identifying dural tumors mimicking meningiomas.
  • Differentiating inflammatory lesions from lymphoma.

Molecular Analysis including:

  • Identifying loss of heterozygosity on chromosomes 1p and 19q.
  • Identifying epidermal growth factor receptor (EGFR) amplification.
  • Identifying mutations in isocitrate dehydrogenase 1 (IDH).
  • Identifying losses of heterozygosity on 10q and 22.
  • Identifying tumor suppressor gene mutations such as those in P53 and CDKN2A.

Neurodegenerative Disorders

Our laboratory has a high level of experience in the area of neurodegenerative disorders. Our diagnostic capabilities are available for evaluation of post-mortem tissue to identify a wide array of common and uncommon disorders.

  • Early and late onset Alzheimer’s type dementia.
  • Multi-infarct dementia.
  • Synucleinopathies including: Parkinson’s disease, dementia with Lewy bodies, multi-system atrophy.
  • Tauopathies including: Frontotemporal dementia, FTDP-17T Parkinsonism, corticobasal degeneration, Pick’s disease, argyrophilic grain disease, progressive supranuclear palsy.
  • Trinucleotide repeat disorders including: Huntington’s disease, spinocerebellar ataxias, Friedreich’s ataxia, spinal muscular atrophies, dentatorubral-pallidoluysian atrophy.
  • Motor neuron disorders.
  • Frontotemporal lobar degeneration.
  • Peroxisomal disorders.
  • Prion Disorders including: sporadic and familial Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Stäussler-Scheinker disease and variant CJD.

Muscle Disorders

The Neuropathology Laboratory accepts muscle biopsy specimens for analysis of the following conditions:

  • Unexplained weakness or muscle pain.
  • Unexplained elevation in serum CK levels.
  • Recurrent rhabdomyolysis.
  • Denervation.
  • Inflammatory myopathies.
  • Muscular dystrophies.
  • Myopathies.
  • Mitochondrial disorders.

Storage and Transport

The Neuropathology Laboratory will provide protocols for handling and transporting all tissue specimens. We also provide containers for shipping when indicated.

Neuropathologists

Contact Us

For more information or assistance in ordering any laboratory test, please call (585) 275-3202 and ask for Dr. Johnson or contact Linda Crandall Supervisor, at (585) 275-3201.