Sign in →

Test Code 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 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. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

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 specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


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

617636

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

Method Name

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

Reporting Name

Muscular Dystrophy 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

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.

Method Description

Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.

 

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Inherited Muscular Dystrophy Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

Genes analyzed: 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.

Day(s) Performed

Varies

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

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 more information see Neuromuscular Myopathy Testing Algorithm