Kallman Syndrome FISH Analysis

Test Description:

Kalmann Syndrome FISH (Fluorescence In Situ Hybridization) is offered for diagnostic evaluation of individuals with clinical features of Kallmann syndrome (hypogonadotropic hypogonadism and anosmia). Individuals with isolated Kallmann syndrome who are not deleted by FISH may have a mutation in the KAL1 gene or may have an autosomal form of the disorder.

Specimen Requirements:

Whole blood in sodium heparin (green top) tube, minimum 5-10 ml

Shipping: Ship at room temperature.

Turnaround Time: 7-10 days

CPT Codes: 88230, 88271x2, 88274, 88291

Consent Form: Postnatal Consent [PDF]

Requisition Form: General Test Requisition [PDF]