Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory Kallmann Syndrome Analysis

Kallmann Syndrome Analysis

Test Description:
KAL1 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: Samples should be received on day of collection. Keep specimens at room temperature.

Turnaround Time: 7-10 days

CPT Codes: 88235, 88271x2, 88274, 88291

Consent Form: Peripheral Blood Chromosomes and FISH Consent [PDF]

Requisition Form: General Test Requisition [PDF]