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Test Code EDMDP Inherited Emery-Dreifuss Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.

The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Neurology Patient Information

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Secondary ID

617558

Useful For

Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy

 

Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family members

Genetics Test Information

This test utilizes-next generation sequencing to detect single nucleotide and copy number variants in 7 genes associated with Emery-Dreifuss muscular dystrophy: EMD, FHL1, LMNA, SUN1, SUN2, SYNE1, and TMEM43. See Targeted Genes and Methodology Details for Inherited Emery-Dreifuss Gene Panel and Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for Emery-Dreifuss muscular dystrophy.

Testing Algorithm

For more information see Neuromuscular Myopathy Testing Algorithm.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Emery-Dreifuss Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Emery-Dreifuss muscular dystrophy typically presents in early childhood and is characterized by a triad of early contractures, slowly progressive muscle weakness and atrophy, and cardiac abnormalities. Joint contractures usually being in early childhood and predominate in the elbows, ankles, and posterior cervical muscles. Muscle wasting and atrophy typically become evident by the second or third decade and initially follows a humeroperoneal distribution. Later in the course of disease the scapular and pelvic girdle muscles become affected. The most common cardiac manifestations include atrial tachyarrhythmias, atrial standstill, ventricular tachyarrhythmias, and cardiomyopathy. Age of onset and disease severity demonstrate inter- and intrafamilial variability.

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

28 to 42 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81405

81404

81406 x 2

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
EDMDP Emery-Dreifuss Gene Panel 103733-2

 

Result ID Test Result Name Result LOINC Value
617559 Test Description 62364-5
617560 Specimen 31208-2
617561 Source 31208-2
617562 Result Summary 50397-9
617563 Result 82939-0
617564 Interpretation 69047-9
618179 Additional Results 82939-0
617565 Resources 99622-3
617566 Additional Information 48767-8
617567 Method 85069-3
617568 Genes Analyzed 48018-6
617569 Disclaimer 62364-5
617570 Released By 18771-6