Inherited Emery-Dreifuss Gene Panel, Varies

Casandra

Casandra Test Code MC85841Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID EDMDPCPT Codes 81404, 81405, 81406, 81479

Inherited Emery-Dreifuss Gene Panel, Varies

Clinical Use

Use

This test is useful for establishing a molecular diagnosis of patients with Emery-Dreifuss muscular dystrophy by identifying variants within the seven associated genes (EMD, FHL1, LMNA, SUN1, SUN2, SYNE1, TMEM43). It helps with predictive testing of at-risk family members and aids in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.

Special Instructions

A previous bone marrow transplant from an allogenic donor will interfere with testing. Ensure that specimens are received within 4 days of collection for optimal tissue stability. DNA extraction must occur in a CLIA-certified laboratory or equivalent. Variants classified as benign or likely benign are not reported. Contact Mayo Clinic Laboratories genetic counselors for additional testing options or result interpretation assistance.

Limitations

Next-generation sequencing may not detect all genomic variants. False-negative or false-positive results may occur due to variable depth of coverage, technical limitations in regions of homology, high GC content, repetitive sequences, or if the specific clinical disorder suspected is not covered. Technical limits include detection of 95% of deletions up to 75 bp and insertions up to 47 bp. Delins over 40 bp may be less reliably detected and single exon resolution might not be achieved in complex regions. Results may be inaccurate with recent blood transfusions or hematopoietic stem cell transplants.

Test Details

New York Approved