Multiple Epiphyseal Dysplasia Panel

Casandra

Casandra Test Code PG63362Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10247CPT Code 81479

Multiple Epiphyseal Dysplasia Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

This component utilizes Next-Generation Sequencing (NGS) technology to target 10 genes associated with Multiple Epiphyseal Dysplasia. The test includes CNV analysis to detect copy number variations that may contribute to the condition.

Mutation (10 genes)

COMPMATN3COL9A1COL9A2COL9A3COL11A1COL11A2CHST3SLC26A2PCOLCE