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Test 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 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.

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 Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

21 to 35 days

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

NY State Approved

Yes

Testing Algorithm

For more information see Neuromuscular Myopathy Testing Algorithm