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HelpTest ID: 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.
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 PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
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.
Clinical Reference
1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424.
2. Heller SA, Shih R, Kalra R, Kang PB: Emery-Dreifuss muscular dystrophy. Muscle Nerve. 2020 Apr;61(4):436-448
Day(s) Performed
Varies
Report Available
28 to 42 daysTest 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 |
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