Sorted By Test Name - Mayo Medical Laboratories

CANW
81780
CA25
9289
1 0.35-0.69 Equivocal
2 0.70-3.49 Positive
3 3.50-17.4 Positive
4 17.5-49.9 Strongly positive
5 50.0-99.9 Strongly positive
6 > or =100 Strongly positive Reference values
apply to all ages.
Clinical References: Homburger HA: Allergic diseases. In Clinical Diagnosis and Management by
Laboratory Methods. 21st edition. Edited by McPherson RA, Pincus MR. WB Saunders, Publ, New York,
Chapter 53, Part VI, pp. 961-971, 2007
Canavan Disease, Mutation Analysis, ASPA
Clinical Information: Canavan disease is a severe leukodystrophy resulting from a deficiency of the
enzyme aspartoacylase. Mutations in the ASPA gene cause the clinical manifestations of Canavan disease.
The deficiency of aspartoacylase leads to spongy degeneration of the brain, and the disease is
characterized by delayed development beginning at age 3 to 6 months, head lag, macrocephaly, and
hypotonia. Death usually occurs within the first decade of life. The carrier rate in the Ashkenazi Jewish
population is 1/41. Four ASPA mutations are included in this test: 433(-2)A->G, A305E, E285A, and
Y231X. The E285A and Y231X mutations account for approximately 98% of the mutations in the
Ashkenazi Jewish population. The A305E mutation accounts for approximately 50% of the mutations in
the non-Ashkenazi Jewish population.
Useful For: Carrier testing for individuals of Ashkenazi Jewish ancestry Prenatal diagnosis in at-risk
pregnancies Confirmation of a suspected clinical diagnosis of Canavan disease in individuals of
Ashkenazi Jewish ancestry
Interpretation: An interpretative report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Gross SJ, Pletcher BA, Monaghan KG: Carrier screening individuals of
Ashkenazi Jewish descent. Genet Med 2008;10(1):54-56 2. ACOG Committee on Genetics: ACOG
Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in
individuals of Eastern European Jewish descent. Obstet Gynecol 2009;Oct;114(4):950-953 3. Matalon R:
Canavan disease: diagnosis and molecular analysis. Genet Testing 1997;1:21-25
Cancer Antigen 125 (CA 125), Serum
Clinical Information: Cancer antigen 125 (CA 125) is a glycoprotein antigen normally expressed in
tissues derived from coelomic epithelia (ovary, fallopian tube, peritoneum, pleura, pericardium, colon,
kidney, stomach). Elevated serum CA 125 levels are seen in many patients with cancer of the ovary; the
percentage of positive cases increases with cancer stage. Elevated serum CA 125 levels have been
reported in individuals with a variety of nonovarian malignancies including cervical, liver, pancreatic,
lung, colon, stomach, biliary tract, uterine, fallopian tube, breast, and endometrial carcinomas. Elevated
serum CA 125 levels have been reported in individuals with a variety of nonmalignant conditions
including: cirrhosis, hepatitis, endometriosis, first trimester pregnancy, ovarian cysts, and pelvic
inflammatory disease. Elevated levels during the menstrual cycle also have been reported.
Useful For: Evaluating patients' response to cancer therapy, especially for ovarian carcinoma
Predicting recurrent ovarian cancer or intraperitoneal tumor
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