Sorted By Test Name - Mayo Medical Laboratories

FACE
90447
ACE
8285
Trisomy is the most common type of chromosome abnormality in spontaneous abortions and has been
observed for most chromosomes, with 13, 15, 16, 18, 21, 22, X, and Y being the most common.
Conventional chromosome analyses of POC (#8887 Chromosome Analysis, Autopsy, Products of
Conception, or Stillbirth) is a commonly performed method used to identify these common chromosome
aneuploidies. Conventional chromosome analysis involves fibroblast cultures. Unfortunately, 20% of
POC specimens fail to grow when cultured. A FISH method has been developed to analyze this subset of
cases or to be used when fresh tissue is not available for full chromosome analysis.
Useful For: Screening for the common chromosomal aneuploidies (13, 15, 16, 18, 21, 22, X, and Y) in
POC when fresh tissue is not available for full chromosome analysis Rapid detection of common
chromosomal aneuploidies or triploidy Determining the genetic cause of a miscarriage
Interpretation: Aneuploidy is detected when the percent of cells with an abnormality exceeds the
normal reference range for any given probe. An interpretive report is provided.
Reference Values:
An interpretive report will be provided.
Clinical References: Warburton D, Byrne J, Canki N: Chromosome anomalies and prenatal
development: An atlas. In Oxford Monographs on Medical Genetics. New York, Oxford University Press,
1991, pp 2-3, 57-62
Angiotensin Converting Enzyme, CSF
Reference Values:
Reference Range: or = 4 ACE Units Increased Level
CSF levels of angiotensin converting enzyme (ACE) are increased
in approximately 50% of patients with neurosarcoidosis, but in less
than 10% of systemic sarcoidosis patients without neurologic
manifestations.
Test Performed by: Focus Diagnostics, Inc.
5785 Corporate Avenue
Cypress, CA 90630-4750
Angiotensin Converting Enzyme, Serum
Clinical Information: Angiotensin converting enzyme (ACE) participates in the renin cascade in
response to hypovolemia. Its peptidase action on the decapeptide angiotensinogen I results in the
hydrolysis of a terminal histadyl lucine dipeptide and the formation of the octapeptide angiotensin II, a
potent vasoconstrictor that increases blood pressure. The primary source of ACE is the endothelium of the
lung. ACE activity is increased in sarcoidosis, a systemic granulomatous disease that commonly affects
the lungs. In sarcoidosis, ACE is thought to be produced by epithelioid cells and macrophages of the
granuloma. Currently, it appears that ACE activity reflects the severity of sarcoidosis: 68% positivity in
those with stage I sarcoidosis, 86% in stage II sarcoidosis, and 91% in stage III sarcoidosis. Serum ACE
also appears to reflect the activity of the disease; there is a dramatic decrease in enzyme activity in some
patients receiving prednisone. Other conditions such as Gaucher disease, leprosy, untreated
hyperthyroidism, psoriasis, premature infants with respiratory distress syndrome, adults with amyloidosis,
and histoplasmosis have been associated with increased levels of ACE.
Useful For: Evaluation of patients with suspected sarcoidosis
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