Therapath Neuropathology

Skin Test for CADASIL & Storage Disorders

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a cerebral microangiopathy, associated with mutations in the Notch 3 gene.

CADASIL can present with migraines, strokes or dementia, occasionally with neuropathy. It primarily affects vascular smooth muscle cells, and is characterized by extracellular deposition of granular osmiophilic material in the tunica media of blood vessels. The deposits can be detected by Electron Microscopy of skin biopsies.1,2

Electron Microscopic examination of skin biopsies can also aid in the diagnosis of various Lysosomal and Perioxisomal storage diseases, listed below. Electron Microscopy of skin biopsies can aid in establishing a diagnosis or provide clues to direct further investigations, based on morphological appearance of stored material and the cell type affected.3–5

  • Neuronal ceroid lipofuscinosis (NCL)
  • Mucopolysaccharidoses
  • Oligosaccharidoses
  • Glycogen storage disorders
  • Lipidoses
  • GM2-gangliosidoses
  • Metachromatic leukodystrophy
  • Krabbe globoid cell leukodystrophy
  • Niemann-Pick’s disease
  • Inherited neuroaxonal dystrophies
  • Adrenoleukodystrophy / adrenoleukomyeloneuropathy

Biopsy kits

Biopsy kits for CADASIL and Storage Disorders include the following components:

  • 2 vials of 3% glutaraldehyde in Sorensen’s Buffer – (Refrigerate vials 2-8° C)
  • Sterile single use skin biopsy punch tool
  • Coolant pack (store in a freezer no colder than -20° C)
  • Foam insulating container and shipping box
  • Pre-paid shipping label and requisition form

Order Biopsy Kit

Return shipping

Specimens must be shipped the same day they are collected. Place the frozen cold pack in the cooler with the foam barrier on top. Deposit the specimen bag with labeled vial(s) on top of the foam barrier. Close the foam cooler and place it in the cardboard box.

Enclose the completed requisition form and copy of the patient’s insurance card inside the box. Call FedEx (800-463-3339) or UPS (800-823-7459) to schedule a pickup.

Please contact our client services team if you have questions about submitting samples.


Sicurelli F, Dotti M, De S, et al. Peripheral neuropathy in CADASIL. J Neurol. 2005;252(10):1206-1209. [PubMed]
Brulin P, Godfraind C, Leteurtre E, Ruchoux M. Morphometric analysis of ultrastructural vascular changes in CADASIL: analysis of 50 skin biopsy specimens and pathogenic implications. Acta Neuropathol. 2002;104(3):241-248. [PubMed]
Prasad A, Kaye E, Alroy J. Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases. J Child Neurol. 1996;11(4):301-308. [PubMed]
Alroy J, Ucci A. Skin biopsy: a useful tool in the diagnosis of lysosomal storage diseases. Ultrastruct Pathol. 2006;30(6):489-503. [PubMed]
Ueda A, Hirano T, Takahashi K, et al. Detection of granular osmiophilic material of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by light microscopy in frozen sections. Neuropathol Appl Neurobiol. 2009;35(6):618-622. [PubMed]