Sorted By Test Name - Mayo Medical Laboratories

5439
Interpretation: The quantitative measurements of the various amino acids, acylcarnitines, and
succinylacetone support the interpretation of the complete profile but for the most part are not diagnostic
by themselves. The interpretation is by pattern recognition. Abnormal results are not sufficient to
conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis, independent
biochemical (ie, in vitro enzyme assay) or molecular genetic analyses are required, many of which are
offered within the Department of Laboratory Medicine and Pathology Division of Laboratory Genetics.
The reports will be in text form only, values for the more than 60 analytes and analyte ratios will not be
provided. A report for a normal screening result will be reported as: "In this blood spot sample, the amino
acid and acylcarnitine profiles by tandem mass spectrometry showed no biochemical evidence indicative
of an underlying metabolic disorder." A report for an abnormal screening result will include a quantitative
result of the abnormal metabolites, a detailed interpretation of the results, including an overview of the
results' significance, possible differential diagnoses, recommendations for additional biochemical testing
and confirmatory studies (enzyme assay, molecular analysis), a phone number for one of the contacts at
the Mayo Clinic, and a phone number for one of the laboratory directors if the referring physician has
additional questions.
Reference Values:
Not applicable
Clinical References: 1. Matern D:Tandem mass spectrometry in newborn screening.
Endocrinologist 2002;12:50-57 2. Rinaldo P, Tortorelli S, Matern D:Recent developments and new
applications of tandem mass spectrometry in newborn screening. Curr Op Peditr 2004;16:427-433 3.
Rinaldo P, Zafari S, Tortorelli S, Matern D:Making the case for objective performing metrics in newborn
screening by tandem mass spectrometry. MRDD Res Rev 2006;12:255-261 4. Matern D, Tortorelli S,
Oglesbee D, et al:Reduction of the false-positive rate in newborn screening by implementation of
MS/MS-based second-tier tests:The Mayo Clinic experience (2004-2007). J Inherit Metab Dis
2007;30(4):585-592
Surgical Pathology Consultation
Clinical Information: The Mayo Division of Anatomic Pathology is staffed by pathologists whose
special interests cover the entirety of surgical pathology. Because of the volume of specimens, ranging
from common to rare entities, the depth of experience is great. For many years, Surgical Pathology has
provided consultation service on difficult diagnostic problems. The histologic specimens are usually sent
by a referring pathologist to one of the surgical pathologists who is an expert in the given area. Slides
received in Mayo Medical Laboratories are reviewed by a surgical pathologist and, when necessary,
shared with a pathologist whose area of special interest encompasses the problem. Emphasis is placed on
prompt and accurate replies. Stained slides and blocks received are reviewed in conjunction with the
supplied clinical history, laboratory findings, and pathologist's report. If additional special stains are
needed, they are made and included in the interpretive process by the consulting pathologist. In some
cases, electron microscopy and other procedures are utilized as required.
Useful For: Obtaining a rapid, expert second opinion Obtaining special studies not available locally In
products of conception, differentiating between complete moles and spontaneous abortion
Interpretation: The histologic slides, special stains, and history along with the primary pathologist's
report and questions are correlated by a pathologist who has expertise in the suspected diagnosis. A verbal
and written report is issued. Molar Pregnancy Evaluation: The p57 immunostain stains for proteins
derived from the maternal allele of the p57 gene, also known as CDKN1C or Kip2. Because complete
moles are entirely paternally-derived, they do not stain positive for p57. Conversely, tissue from
spontaneous abortions show positive p57 staining.
Reference Values:
This request will be processed as a consultation. An interpretation will be provided. Second opinion
regarding diagnosis will be rendered by staff pathologists in consultation with colleagues who have
expertise in the appropriate subspecialty areas. Appropriate stain(s) will be performed and charged
separately.
Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or MayoMedicalLaboratories.com Page 1657