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Unit Code 88540:
Kallmann Syndrome, Xp22.3 Deletion, FISH

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Method Description

The detection of the Kallmann syndrome deletion is based on FISH

analysis of the critical region (KAL) on the short arm of the X

chromosome (Xp22.3). Metaphase cells are examined for the presence

of the critical region loci at Xp22.3 (orange signal) and the control

probe at the X centromere (green signal). In metaphase cells with a

deletion, the abnormal (deleted) X will exhibit only a control probe

signal, while signals for both the critical region and control probes

will be present on the normal X homolog in males and on both X

chromosomes in females. (Crifasi PA, Michels VV, Driscoll DJ,

et al:  DNA fluorescent probes for diagnosis of velocardiofacial

and related syndromes. Mayo Clin Proc 1995 Dec;195[70]:

1148-1153)

Performing Laboratory Location

Rochester

Key