NOTICE: We are continuing to provide all of our genetic testing during the COVID-19 pandemic, but the reporting times for some of our tests may be slower than usual. This delay could be due to three reasons:
laboratory resources being directed to testing for COVID-19
fewer interstate flights for shipping samples
a backlog of tests as restrictions on elective surgery and procedures are lifted
We apologise for any delay in reporting your genetic test result.
If you have any concerns about this, please speak with the doctor who ordered your genetic test.
Kallman syndrome is a disorder of delayed puberty and impaired sense of smell. Mutations in multiple different genes can cause this syndrome. This test of two of the genes responsible has diagnostic implications.
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.
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.
Analysis for gene deletions using fluorescent in situ hybridisation (FISH) probes located in the KAL1 and FGFR1 genes.
Requesting the test
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 collection centre (see link below).
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 recommend that the patient or another adult check the labelling of request forms and sample tubes.
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.