Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

FNMYC
87862
FMNB
Neurologic problems include poorly controlled myoclonus (sudden brief involuntary muscle
contractions), painful neuropathy, and delayed nerve conduction. The majority of type I patients have
been Italian. Type II sialidosis is distinguished from type I by the presence of abnormal somatic features,
including coarse facies and dysotosis multiplex. Type II can generally be subdivided into an infantile
form, juvenile form, and congenital (or hydropic) form. In addition to primary neuraminidase deficiency
disorders, there are also patients with a similar clinical disorder who suffer from a combined deficiency of
neuraminidase and beta-galactosidase. To date, the human alpha-neuraminidase defect is sialidosis
patients has not been well characterized. This situation is complicated by the fact that neuraminidase is
unstable and quickly destroyed by freezing, sonication, solubilization, and most purification procedures.
Useful For: As an aid in the diagnosis of sialidosis
Interpretation: Patient specimens with >23% of co-run normal control activity are considered to be
normal. Specimens with 17% to 23% of co-run normal activity are in an indeterminate range; molecular
confirmation is recommended, if clinically indicated. Specimens with 23% of the co-run normal control of the day
Clinical References: Thomas GH: Disorders of glycoprotein degradation: alpha-mannosidosis,
beta-mannosidosis, fucosidosism and sialidosis. In The Metabolic Basis of Inherited Disease, 8th
edition. Edited by CR Scriver, AL Beuadet, WS Sly, DE Valle. Chapter 140. 2001, pp 3507
Neuroblastoma, 2p24 (MYCN) Amplification, FISH
Clinical Information: Neuroblastoma is a solid tumor that occurs in early childhood and is usually
found in the adrenal glands, but rarely is found in other areas of the body. Approximately 25% of all
neuroblastomas have amplification of the MYCN oncogene, located on chromosome 2 at p24.1.
Amplification of the MYCN oncogene correlates with an unfavorable prognosis and aggressive disease.
Useful For: As a prognostic factor for patients with neuroblastoma As an aid to treatment decisions
in some patients with neuroblastoma
Interpretation: MYCN gene amplification is detected when the percent of cells with an abnormality
exceeds the normal cutoff for the MYCN probe. A positive result is consistent with MYCN gene
amplification. A negative result suggests no MYCN gene amplification. However, this result does not
exclude the diagnosis of neuroblastoma. Specimens will be considered within normal limits if they have
an MYCN-to-D2Z1 ration of 1.00 to 2.00, which indicates there are an equal number of copies of the
MYCN oncogene and the centromere 2. Specimens are considered amplified if they have a ratio of > or
=4.00.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Ambros PF, Ambros IM, SIOP Europe Blastoma Pathology, Biology, and
Bone Marrow Group: Pathology and biology guidelines for resectable and unresectable neuroblastic
tumors and bone marrow examination guidelines. Med Pediatr Oncol 2001 Dec;37(6):492-504 2. Spitz
R, Hero B, Skowron M, et al: MYCN-status in neuroblastoma: characteristics of tumours showing
amplification, gain, and non-amplification. Eur J Cancer 2004 Dec;40(18):2753-2759 3. Valent A, Le
Roux G, Barrois M, et al: MYCN gene overrepresentation detected in primary neuroblastoma tumour
cells without amplification. J Pathol 2002 Dec;198(4):495-501 4. Schwab M: Amplified MYCN in
human neuroblastoma: paradigm for the translation of molecular genetics to clinical oncology. Ann NY
Acad Sci 2002 Jun;963:63-73
Neuroblastoma, 2p24 (MYCN) Amplification, FISH, Blood or
61239
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