Sign in →

Test Code LGCMP Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies


Ordering Guidance


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 whole blood 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 limb-girdle muscular dystrophy or congenital myasthenic syndrome

 

Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic syndrome, 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 65 genes associated with limb-girdle muscular dystrophy and congenital myasthenic syndrome: AGRN, ALG14, ALG2, ANO5, BIN1, BVES, CAPN3, CAV3, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CRPPA, DAG1, DES, DNAJB6, DNM2, DOK7, DPAGT1, DPM3, DYSF, FKRP, FKTN, GAA, GFPT1, GMPPB, HNRNPDL, LAMA2, LAMB2, LMNA, LRP4, MUSK, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, RAPSN, SCN4A, SGCA, SGCB, SGCD, SGCG, SLC18A3, SLC25A1, SLC5A7, SYT2, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VAMP1, VCP. For more information see Method Description and Targeted Genes and Methodology Details for Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for limb-girdle muscular dystrophy and congenital myasthenic syndrome.

Reporting Name

LGMD and CMS 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.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

21 to 28 days

Specimen Retention Time

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81443

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LGCMP LGMD and CMS Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
617624 Test Description 62364-5
617625 Specimen 31208-2
617626 Source 31208-2
617627 Result Summary 50397-9
617628 Result 82939-0
617629 Interpretation 69047-9
618184 Additional Results 82939-0
617630 Resources 99622-3
617631 Additional Information 48767-8
617632 Method 85069-3
617633 Genes Analyzed 48018-6
617634 Disclaimer 62364-5
617635 Released By 18771-6

Testing Algorithm

For more information see Neuromuscular Myopathy Testing Algorithm