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HelpTest ID: MDYSP Inherited Muscular Dystrophy Gene Panel, Varies
Ordering Guidance
This test does not currently test for facioscapulohumeral muscular dystrophy type 1, oculopharyngeal muscular dystrophy, or myotonic dystrophy types 1 and 2. Additional testing for these conditions would need to be ordered separately if clinically indicated.
Targeted testing for familial variants (also called site-specific or known mutations 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 Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: None
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) 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2mL with skirted conical base
Acceptable: Matrix tube, 1mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.
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 muscular dystrophy
Identifying variants within genes known to be associated with 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 75 genes associated with muscular dystrophy: ACTA1, ANO5, B3GALNT2, B4GAT1, BAG3, BIN1, BVES, CAPN3, CAV3, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, GOSR2, HNRNPA1, HNRNPA2B1, HNRNPDL, INPP5K, ITGA7, JAG2, LAMA2, LARGE1, LDB3, LMNA, MATR3, MSTO1, MYH7, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SQSTM1, SUN1, SUN2, SYNE1, TCAP, TIA1, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, and VCP. For more information see Method Description and Targeted Genes and Methodology Details for Inherited Muscular Dystrophy Gene Panel.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for muscular dystrophy.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Muscular Dystrophy Gene PanelSpecimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Clinical Information
Muscular dystrophies are a heterogeneous group of neuromuscular conditions characterized by skeletal muscle wasting due to muscle dysfunction. The muscular dystrophies can be subdivided into the dystrophinopathies: Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophies, distal myopathies, and congenital muscular dystrophies. A clinical diagnosis is typically based on distribution and severity of muscular involvement, mode of inheritance, and other associated symptoms.
The dystrophinopathies include Duchenne muscular dystrophy and Becker muscular dystrophy. These 2 forms are inherited in an X-linked manner and typically present with variable degrees of a limb-girdle pattern of weakness and can develop dilated cardiomyopathy. Emery-Dreifuss muscular dystrophy is characterized by the triad of joint contractures, slowly progressive muscle weakness and wasting, and cardiac involvement. Limb-girdle muscular dystrophy is characterized by weakness and wasting predominately of the hips, shoulders, and proximal extremity muscles. Distal myopathies are disorders with weakness and atrophy predominantly in the distal muscles. Congenital muscular dystrophies are progressive early-onset muscle disorders that often have brain and other organ involvement. They are characterized by hypotonia, delayed motor development, and progressive weakness.
Given the clinical overlap of muscular dystrophies, multigene panels can be an efficient and cost-effective way to establish a molecular diagnosis for individuals who are symptomatic.
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;17(5):405-424
2. Hermans MC, Pinto YM, Merkies IS, et al. Hereditary muscular dystrophies of the heart. Neuromuscul Disord. 2010;20(8):479-492
3. Wicklund MP, Kissel JT. The limb-girdle muscular dystrophies. Neurol Clin. 2014;32(3):729-749
4. Flanigan KM. The muscular dystrophies. Semin Neurol. 2012;32(3):255-263
5. Iannaccone ST, Castro D. Congenital muscular dystrophies and congenital myopathies. Continuum (Minneap Minn). 2013;19(6 Muscle Disease):1509-1534
Day(s) Performed
Varies
Report Available
21 to 35 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
81443
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MDYSP | Muscular Dystrophy Gene Panel | 103952-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617637 | Test Description | 62364-5 |
| 617638 | Specimen | 31208-2 |
| 617639 | Source | 31208-2 |
| 617640 | Result Summary | 50397-9 |
| 617641 | Result | 82939-0 |
| 617642 | Interpretation | 69047-9 |
| 618185 | Additional Results | 82939-0 |
| 617643 | Resources | 99622-3 |
| 617644 | Additional Information | 48767-8 |
| 617645 | Method | 85069-3 |
| 617646 | Genes Analyzed | 48018-6 |
| 617647 | Disclaimer | 62364-5 |
| 617648 | Released By | 18771-6 |
Testing Algorithm
For information see Neuromuscular Myopathy Testing Algorithm
Specimen Minimum Volume
See Specimen Required
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