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Familial Hypocalciuric Hypercalcaemia (FHH) Genetic Test
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General
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Clinical Use:
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For the diagnosis of FHH and to distinguish FHH from primary hyperparathyroidism and other disorders of calcium homeostasis.
Patient must have proven PTH-dependent hypercalcaemia with urine calcium uncharacteristically low for primary hyperparathyroidism.
Sequence analysis of CASR (FHH1), exons 2 to 7 of GNA11 (FHH2) and exon 2 of AP2S1 (FHH3). |
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Availability:
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Aliases/Synonyms:
| Calcium Receptor Mutation, CASR, FHH, |
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Code:
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BFHHG |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Refer to report or laboratory
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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Collection Instructions:
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Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample at room temperature. |
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Minimum Assay Volume:
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Stability:
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3 days ambient |
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Cardiovascular Genetics |
Biochemistry |
Fiona Stanley Hospital |
6152 8128 |
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Last Updated : 03-10-2020 08:15 |