Diagnostics

Alan and Sandra Gerry Amyloid Reference Laboratory
The Gerry Amyloid Reference Laboratory performs specialized diagnostic testing for systemic amyloidosis.  Our goal is to provide patients and physicians with accurate and timely diagnosis of the amyloid disease process. Please contact us before sending samples for diagnostic testing
(617-638-4317, amyloid@bmc.org).

Fat Aspirates, Biopsies, and Congo Red Staining for Diagnosis of Amyloidosis
Material from a fat aspirate or organ biopsy can be stained with the dye Congo red and examined by polarized light microscopy, under which amyloid fibrils have a typical “apple green” birefringence. Charges for this service  typically are $225.

Histopathology Techniques for Amyloid Typing

The Gerry Laboratory can perform immunohistochemistry for immunoglobulin light chains (kappa and lambda), transthyretin (TTR), serum amyloid A (AA), apolipoproteins AI and AII, lysozyme, and fibrinogen. In some cases, immunoelectron microscopy using immunogold antibodies may be employed. Biopsies obtained for possible immunoelectron microscopy should be fixed in 2% paraformaldehyde rather than standard formalin. Charges for this service depend upon how many antibodies are needed for typing and can typically range from $1300 to $1700.

Light microscopic images of immunohistochemical staining for amyloid precursor proteins transthyretin (TTR) and Ig light chain (LC) and for the extracellular protein clusterin (CLU) in serial sections of control (no amyloid), senile systemic amyloidosis (SSA), familial TTR amyloidosis (ATTR), and LC amyloidosis (AL) cardiac tissue specimens.

Light microscopic images of immunohistochemical staining for amyloid precursor proteins in cardiac tissue specimens.

Molecular and Genetic Testing

For patients suspected of having an inherited or familial form of systemic amyloidosis, we can perform molecular and genetic testing techniques. These are generally carried out on blood samples. They include isoelectric focusing screening for TTR variants, PCR-based gene sequencing of many of the familial types of amyloid (TTR, fibrinogen, lysozyme, apoplipoproteins AI and AII, and gelsolin). Charges for molecular and genetic testing can range from  $415 for a known mutation to up to $800 ($50 for each additional exon tested)  depending upon what is required for each case.IEF-TTRBased upon recent federal legislation, patients who have hereditary predisposition to diseases like amyloidosis cannot be discriminated against with respect to employment or health insurance. For more information, search the web for information on GINA, the “Genetic Information Nondiscrimination Act”.

General Information

The Amyloid Reference Laboratory is accredited by the College of American Pathologists under the aegis of the Pathology and Laboratory Medicine Department of Boston Medical Center. Dr. Lawreen Connors directs the laboratory, and Dr. Carl O’Hara is the Chief of Amyloid and Hematopathology.

Please be aware that the cost of testing may be covered by insurance or a referring hospital, or may have to be paid for individually. We are not able to bill insurance outside of Massachusetts.  Research-related testing will not be charged.

Please contact our office if you have questions, 617-638-4317.