CASR Related Disorders - The calcium sensing receptor (CASR) is a plasma membrane G-protein receptor.  Ligand binding results in the activation of signaling cascades causing a decrease in parathyroid hormone(PTH)  secretion from parathyroid chief cells and a reduction of renal tubular calcium absorptionread more

Tests Available

By gene: CASR
Sanger Sequencing
Test Code: 1751
Deletion / Duplication
Test Code: 1752
NGS/Del Dup Comprehensive
Test Code: 1753

Test Details

Technical Information
Disease Groups: 
Metabolic and Endocrine Disorders
CPT Codes: 
81405 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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