Calcium-sensing receptor (CASR) gene sequencing analysis-994
Test info
hypocalciuric hypercalcemia (FHH)
neonatal severe hyperparathyroidism (NSHPT)
autosomal dominant hypocalcemia (ADH)
Bartter syndrome
hypoparathyroidism
hypercalcemia
Diagnostic testing. CASR gene sequencing may be useful in the diagnostic workup of familial hypocalciuric hypercalcemia (FHH), autosomal dominant hypocalcemia, neonatal severe primary hyperparathyroidism (NSPHT), autosomal dominant hypoparathyroidism (ADH), Bartter syndrome, or kidney stones.
This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.
Specimen
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting
Lavender (EDTA), 4mL
Molecular Medicare billing request
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.
Ambient (preferred) - 30 days
Refrigerated - 30 days
Frozen - NO
- Frozen specimens
- Hemolyzed specimens
Performance
Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)
Clinical and Interpretive info
An interpretive report will be provided
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.