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Test Code NMPAN Neuromuscular Genetic Panels by Next-Generation Sequencing (NGS)


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 Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: 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.

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.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Molecular Genetics: Neurology Patient Information in Special Instructions

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)

Useful For

Establishing a diagnosis of a neuromuscular disorder associated with known causal genes

 

Serving as a second-tier test for patients in whom previous targeted gene mutation analyses for specific inherited neuromuscular disorder-related genes were negative

 

Identifying mutations within genes known to be associated with inherited neuromuscular disorders, allowing for predictive testing of at-risk family members

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), qPCR, Sanger Sequencing, and/or Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Neuromuscular Genetic Panels

Specimen Type

Varies

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

No specimen should be rejected.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Analytic Time

10 weeks

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NMPAN Neuromuscular Genetic Panels In Process

 

Result ID Test Result Name Result LOINC Value
37980 Client Provided Sub-Panel 19145-2
37981 Result Summary 50397-9
37982 Result 82939-0
37983 Interpretation 69047-9
37984 Additional Information 48767-8
37989 Method 49549-9
37990 Disclaimer 62364-5
37986 Specimen 31208-2
37987 Source 31208-2
37988 Released By No LOINC Needed

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_G090 Motor Neuron Disease Panel No, (Bill Only) No
_G091 Muscular Dystrophy Panel No, (Bill Only) No
_G092 Myofibrillar Myopathy Panel No, (Bill Only) No
_G093 Congenital Myopathy Panel No, (Bill Only) No
_G094 Congenital Myasthenic Syndromes No, (Bill Only) No
_G095 Metabolic Myopathy Panel No, (Bill Only) No
_G096 Emery-Dreifuss Panel No, (Bill Only) No
_G097 Distal Myopathy Panel No, (Bill Only) No
_G098 Skeletal Muscle Channelopathy Panel No, (Bill Only) No
_G099 Myopathy Expanded Panel No, (Bill Only) No
_G100 Distal Weakness Expanded Panel No, (Bill Only) No
_G101 Rhabdomyolysis and Myopathy Panel No, (Bill Only) No

CPT Code Information

81243

81260

81325

81401

81403

81404

81405

81406

81407

81408

81479