Defects in Calcium Homeostasis Gene Panel
Overview
The Defects in Calcium Homeostasis Gene Panel is a genetic test that analyzes multiple genes involved in the regulation of calcium, phosphate, parathyroid hormone (PTH), vitamin D metabolism, and bone mineral balance. It helps identify inherited causes of abnormal calcium levels and related metabolic bone disorders.
Why is this test done?
- Persistent or unexplained high or low calcium levels
- Abnormal PTH or phosphate levels
- Suspected inherited calcium metabolism disorders
- Recurrent kidney stones or nephrocalcinosis
- Unexplained bone abnormalities or fractures
- Suspected familial hypocalcemia or hypercalcemia
- Early-onset or recurrent metabolic bone disease
- Family history of calcium homeostasis disorders
What does the panel detect?
Depending on the laboratory's panel design, analysis may include genes associated with:
- Parathyroid hormone regulation
- Calcium-sensing pathways
- Vitamin D metabolism and signaling
- Renal calcium and phosphate handling
- Parathyroid gland development and function
- Familial hypercalcemia and hypocalcemia
- Hereditary metabolic bone disorders
Sample Required
Usually EDTA whole blood.
Test Method
Next-Generation Sequencing (NGS), with relevant variant confirmation and/or deletion-duplication analysis where applicable.
Clinical Significance
Identifying a disease-causing genetic variant can help establish the underlying cause of abnormal calcium metabolism, support accurate diagnosis, guide clinical management, and enable appropriate genetic counselling and family testing.
Interpretation
Results should be interpreted along with calcium, phosphate, PTH, vitamin D levels, clinical findings, and family history. A negative result does not completely exclude a genetic cause.
Who may benefit?
Patients with unexplained or recurrent calcium abnormalities, suspected hereditary calcium disorders, metabolic bone disease, or a significant family history of related conditions.
Important Note
Genetic testing should be interpreted by a qualified healthcare professional or genetic counsellor. The exact genes and variant types covered depend on the laboratory's validated panel.
