Calcium-sensing receptor (CASR) gene sequencing analysis

Alphabetical Test listing

Calcium-sensing receptor (CASR) gene sequencing analysis-994

  
Calcium-sensing receptor (CASR) gene sequencing analysis
  
994
  
LAB994
  
MSO
  
CASR gene
  
EDTA whole blood
  
  
3.0 mL
  
1.0 mL
  

Lavender (EDTA), 4mL

  
ACD whole blood
  

Yellow ACD (A or B)

 

 

  

Yellow ACD (A or B)

  

Molecular Medicare billing request

  • Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
  • All information requested is required in order for your request to be completed
  

Ambient (preferred) - 28 days

Refrigerated - 28 days

  
  • Serum or plasma specimens
  • Frozen samples
  • Hemolyzed sample
  
Esoterix Endocrinology (804513) via LabCorp (504513): R-NX
  
Batched/as needed
  
24 days
  

Polymerase chain reaction (PCR) and Sanger sequencing of targeted CASR exons, gel electrophoresis

  

An interpretive report will be provided

  

CASR encodes the calcium sensing receptor (CaSR) which, when activated (1) inhibits secretion of parathyroid hormone (PTH), (2) stimulates calcitonin release from the thyroid, and (3) stimulates urinary calcium excretion. CASR mutations can result in calcium dysregulation:

  • Heterozygous inactivating mutations cause familial hypocalciuric hypercalcemia (FHH)
  • Homozygous inactivating mutations cause neonatal severe hyperparathyroidism (NSHPT)
  • Heterozygous activating mutations cause autosomal dominant hypocalcemia (ADH) or Bartter syndrome type V

Detection rates range from 18-70% for hypercalcemia and approximately 40% for hypocalcemia, as there are additional genes that affect calcium regulation.

Identification of CASR mutations can be used to:

  • Determine the cause of hypercalcemia in patients considering parathyroid surgery (CASR mutations are not usually associated with PTH-producing tumors)
  • Confirm the diagnosis of NSHPT, leading to urgent parathyroidectomy
  • Identify individuals with ADH who are at risk for developing kidney stones with vitamin D supplements
  • Influence treatment options with calcimimetic or calcilytic therapies
  
This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
  
81405
  
Result 82534-9
  
05/31/2019
  
04/29/2020
  
05/19/2020