STS/Kallman Syndrome
Kallman syndrome is characterized by variable phenotypic features which may include hypogonadism and anosmia. Individuals with Kallman syndrome have deletions of chromosome Xp22.3. Some affected individuals may also have steroid sulfatase deficiency (STS).
Indications for Testing
- Confirmation of a Kallman syndrome diagnosis in affected individuals
- Individuals with atypical clinical findings
Testing Methodology
FISH analysis for Kallman syndrome is performed on metaphase chromosomes to detect deletions of chromosome Xp22.3. Individuals with a positive FISH analysis for Kallman syndrome who also have STS can be identified with another FISH probe specific for the STS gene. If not previously performed, chromosomal analysis is recommended in addition to the FISH study.
Specimen Requirements
Blood: For adults and children, 3 – 5 cc collected in a sodium heparin (green top) vacutainer tube. For newborns, 2 cc is sufficient. Do not centrifuge or freeze. Store sample at room temperature.
Turnaround Time
8 days
CPT Codes
88230, 88271, 88273, 88291
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