Hypomagnesemia Panel
Use
This test is designed for individuals who exhibit clinical features or have a suspected diagnosis of hereditary hypomagnesemia, as well as those experiencing primary or secondary renal magnesium ion wasting. It aims to identify genetic mutations that may contribute to these conditions, helping in the diagnosis, management, and genetic counseling of affected patients.
Special Instructions
Testing can be expedited with STAT testing option, reducing the turnaround time. This test requires comprehensive clinical notes and pedigree information to ensure accurate interpretation of results. It is recommended to include family medical history for a more robust genetic analysis.
Limitations
As with any genetic test, there may be variants of uncertain significance (VUS) which require further investigation and follow-up studies. Results may not cover all potential genetic causes due to limitations in current technology and knowledge. CNV analysis does not cover all forms of structural variants, and undetected mutations in non-coding regions or outside the assay's targets may exist.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided