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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA 17
Method

All coding exons and flanking intronic regions of the calcium sensing receptor (CASR) gene are amplified by PCR and analysed by DNA sequencing.

Diagnostic Use / Indications

Homozygous loss-of-function CASR mutations manifest as neonatal severe hyperparathyroidism (NSHPT) a rare disorder characterized by extreme hypercalcaemia and the bony changes of hyperparathyroidism which occur in infancy. Heterozygous loss-of-function mutations in CASR give rise to familial (benign) hypocalciuric hypercalaemia (FHH) in which the lifelong hypercalcaemia is generally asymptomatic. Activating mutations in the CASR gene have been identified in several families previously diagnosed with autosomal dominant hypocalcaemia (ADH), autosomal dominant hypoparathyroidism, or hypocalcaemic hypercalcaemia. In the parathyroid gland, the activated CASR suppresses PTH secretion and in the kidney it induces hypercalcaemia which contributes to the hypocalcaemia.

Constituent TestsGenomic DNA Extraction ;
External Price$1415.36(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. Gemomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number7312

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