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

FWHS
88535
WORM
biopsy. While liver biopsy is not recommended as a first-tier screening test for WD, it can be useful to
help interpret discrepant biochemical or molecular results. The other tests should be performed prior to
sequence analysis of the ATP7B gene, the gene responsible for WD. More than 300 disease-causing
mutations have been identified in the ATP7B gene. Most mutations are family-specific with the exception
of the H1069Q mutation, which accounts for >50% of identified disease alleles in the Northern European
Caucasian population. See Wilson Disease Testing Algorithm in Special Instructions for additional
information.
Useful For: Diagnostic confirmation of Wilson disease
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Roberts EA, Schilsky ML, American Association for Study of Liver
Diseases (AASLD): Diagnosis and treatment of Wilson disease: an update. Hepatology
2008;47(6):2089-2111 2. Mak CM, Lam CW: Diagnosis of Wilson's disease: a comprehensive review.
Crit Rev Clin Lab Sci 2008;45(3):263-290
Wolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH
Clinical Information: Wolf-Hirschhorn syndrome is associated with a deletion on the short arm of
chromosome 4 (4p16.3). The syndrome is manifested by pre- and postnatal growth retardation and
severe hypotonia (decreased muscle tone). The common major birth defects include microcephaly
(small head), cleft lip and/or palate, and severe heart malformations. Facial features include cranial
asymmetry, prominent forehead, hemangioma, preauricular pits or tags, coloboma of the iris or other
eye malformations, hypertelorism (wide-spaced eyes), micrognathia (small jaw), and a long neck. Many
other birth defects have been seen including brain and kidney malformations, hernias, abnormal external
and internal genitalia, simian crease (single palmar crease), and cutis aplasia (failure of skin
development) of the scalp. Most affected individuals are stillborn or die in the first year, although
survival beyond age 20 has been reported. Mental retardation is profound, and survivors have seizures
and severe hypotonia. FISH studies are highly specific and do not exclude other chromosome
abnormalities. For this reason we recommend that patients suspected of having Wolf-Hirschhorn
syndrome also have conventional chromosome studies (CMS/8696 Chromosomes Analysis, for
Congenital Disorders, Blood) performed to rule out other chromosome abnormalities or translocations.
Useful For: Aids in the diagnosis of Wolf-Hirschhorn syndrome, in conjunction with CMS/8696
Chromosomes Analysis, for Congenital Disorders, Blood Detecting cryptic translocations involving
4p16.3 that are not demonstrated by conventional chromosome studies
Interpretation: Any individual with a normal signal pattern (2 signals) in each metaphase is
considered negative for a deletion in the region tested by this probe. Any patient with a FISH signal
pattern indicating loss of the critical region will be reported as having a deletion of the regions tested by
this probe. This is consistent with a diagnosis of Wolf-Hirschhorn syndrome (4p16.3 deletion).
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Van Dyke DL, Wiktor A: Clinical cytogenetics. In Laboratory Medicine.
6th edition. Edited by K McClatchey. Baltimore, Williams & Wilkins, 2002, Chapter 26 2. Jones K:
Deletion 4p syndrome. In Smithâ€s Recognizable Patterns of Human Malformation. 6th edition.
Philadelphia, Elsevier Saunders, 2005 3. Rodriguez L, Zollino M, Climent S, et al: The new
Wolf-Hirschhorn syndrome critical (WHSCR-2): a description of a second case. Am J Med Genet
2005;136:175-178
Wormwood, IgE
82680
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