Multiple Epiphyseal Dysplasia Panel
Use
This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of Multiple Epiphyseal Dysplasia (MED), those with negative results from previous single-gene testing for MED, and those requiring a differential diagnosis between MED and other skeletal dysplasia disorders.
Special Instructions
This test uses NGS with CNV analysis, utilizing either the Exome or Genome platform, depending on the specimen type. Specimens can include blood, DNA, buccal, saliva, or tissue. STAT testing is available with a faster turnaround time for an additional charge. Exome-Wide CNV Analysis can be added to the order for $250. All testing must be ordered by a qualified healthcare provider.
Limitations
This test may not detect all genetic mutations related to Multiple Epiphyseal Dysplasia. It relies on the limitations inherent to NGS and CNV analysis technologies. Results may be inconclusive if the clinical data provided are insufficient for accurate variant interpretation.
New York Approved
Methodology
NGS (Targeted)
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