MPLNET.com » Test Menu » Kallmann Syndrome deletion Xp22.3 by FISH* Client Login | Email | Phone: 1.800.932.2943

Kallmann Syndrome deletion Xp22.3 by FISH*

Test Code

F KAL*

Test Synonyms

del(X)(p22.3), KAL1 gene, microdeletion syndromes

Methodology

Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory

Turnaround Time

5-7 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood, sodium heparin

Specimen Stability
Stable at 4-25°C for 72 hours.
Storage & Handling

Protect from extreme temperature. Ship with cool pack (refrigerated). Saturday for Monday delivery only if sample is protected from extreme temperature.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

See report

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.

Description

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.

References
  1. John H, Schmid C. (2000). Kallmann’s syndrome: clues to clinical diagnosis. Int J Impot Res. 12(2):121-3.