Test Name
Kallmann Syndrome deletion Xp22.3*
Test Code
F KAL
Synonyms
del(X)(p22.3), KAL1 gene, microdeletion syndromes
Associations
Kallmann Syndrome
CPT Codes
88273 , 88271x2, 88291, 88275
Turnaround Time
9
Specimen Requirements
5mL peripheral blood in sodium heparin Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
Specimen Stability
Blood = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C
Storage & Handling
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Causes for Rejections
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
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 defi
References
- John H, Schmid C. (2000). Kallmann's syndrome: clues to clinical diagnosis. Int J Impot Res. 12(2):121-3.
