CASR Full Gene Sequencing with Deletion/Duplication

Casandra

Casandra Test Code MC75779Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CASRGCPT Code 81405

CASR Full Gene Sequencing with Deletion/Duplication

Clinical Use

Use

This test provides a genetic evaluation for individuals with familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and autosomal dominant hypoparathyroidism. It is useful for establishing a diagnosis and guiding management and familial screening. The test yields critical information for genetic counseling and supports prognostic assessments related to the conditions associated with activating and inactivating CASR variants.

Special Instructions

Prenatal specimens should be accompanied by a maternal blood specimen for maternal cell contamination testing (order MATCC / Maternal Cell Contamination, Molecular Analysis). Specimens, like cultured fibroblasts or amniotic fluid, require additional culture steps. Variants will be evaluated following ACMG and AMP guidelines.

Limitations

Next-generation sequencing might not detect all types of genomic variants. There may be false-negatives or false-positives, especially for deletions-insertions beyond certain sizes. Certain genomic regions with high guanine-cytosine content or homology may present technical limitations. The test does not detect mosaicism or differentiate between somatic and germline variants. If testing was due to a family history, it's advisable to test an affected member initially.

Test Details

New York Approved