del(X)(p22.3), KAL1 gene, microdeletion syndromes
Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory
5.0 mL (min. 3.0 mL) whole blood, sodium heparin
Protect from extreme temperature. Ship with cool pack (refrigerated). Saturday for Monday delivery only if sample is protected from extreme temperature.
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
It is recommended that all FISH studies be done in conjunction with routine cytogenetic studies. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities.
Kallmann syndrome is a clinically and genetically heterogeneous disorder, characterized by isolated hypogonadotropic hypogonadism and anosmia or hyposmia. The KAL1 gene is located on the short arm of the X chromosome. A mutation in this gene causes a deficiency in the gonadotropin-releasing hormone.