Our Tests

KAL1 FISH, FGFR1 FISH

Also known as: KAL1 FISH, FGFR1 FISH

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Purpose

Kallman syndrome is a disorder of delayed puberty and impaired sense of smell. Mutations in any of four different genes can cause this syndrome. This test of two of the genes responsible has diagnostic implications.

These mutations are usually de novo and do not increase the risk of this disorder in siblings or other relatives. However a parent and other relatives may carry a balanced translocation involving this chromosome region and be at increased risk of having an affected child.

Clinical Utility

In an affected person, the presence of a deletion of KAL1 or FGFR1 is diagnostic of Kallman syndrome. The implications for relatives will depend on the gene involved and family history.

In an affected person, a normal result does not exclude the clinical diagnosis. There are other mutations in the KAL1 and FGFR1 genes that are not detected by this test, and other genes (many unidentified) that can cause Kallman syndrome.

Test Method

Analysis for gene deletions using fluorescent in situ hybridisation (FISH) probes located in the KAL1 and FGFR1 genes.

Test Ordering

This test is usually requested by an endocrinologist, paediatrician, or clinical geneticist.

10 mL blood in EDTA. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.

To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.

We also recommend that the patient or another adult check the labelling of request forms and sample tubes.

Special Instructions

If the clinical diagnosis is uncertain, it may be preferable to request a microarray study rather than this specific FISH test as a microarray screens for microdeletions and duplications across all chromosomes.

Please note on the request form whether the requirements of the MBS item descriptor have been satisfied. If this information is not provided, the patient will be billed as a private patient and a Medicare rebate will not be available.

Price

$255.00

This test may have a rebate for all or part of the cost.

Medicare Rebate

This test has a Medicare rebate of $196.35, subject to the requirements of the Medicare descriptor being met. The MBS item number is 73291.

Turnaround Time

3 working days.