Test Catalog

Test Id : NMPAN

Neuromuscular Genetic Panels by Next-Generation Sequencing (NGS), Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes the option of performing 1 of several neuromuscular disease-related panels. Options include the following:

 

Myopathies:

-Myopathy Expanded Panel (141 genes)

-Muscular Dystrophy Panel (77 genes)

-Congenital Myopathy Panel (36 genes)

-Metabolic Myopathy Panel (41 genes)

-Myofibrillar Myopathy Panel (12 genes)

-Distal Myopathy Panel (27 genes)

-Emery-Dreifuss Panel (5 genes)

-Rhabdomyolysis and Myopathy Panel (31 genes)

 

Distal Myopathy + Peripheral Neuropathy:

-Distal Weakness Expanded Panel (217 genes)

(See below for additional peripheral neuropathy testing options available)

 

Motor Neuron Disease:

-Motor Neuron Disease Panel (17 genes)

 

Neuromuscular Junction:

-Congenital Myasthenic Syndromes Panel (25 genes)

 

Hyperexcitable Muscle Disease:

-Skeletal Muscle Channelopathy Panel (6 genes)

 

Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels/)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.

 

See Targeted Genes and Methodology Details for Neuromuscular Genetic Panels in Special Instructions for details regarding the targeted genes for each test.

 

Related Testing:

The following focused hereditary peripheral neuropathy tests are separately available:

-PMPDD / PMP22 Gene, Large Deletion/Duplication Analysis, Varies (1 gene)

-NPPAN / Peripheral Neuropathy Genetic Panels by Next-Generation Sequencing (NGS), Blood

--Hereditary Motor Neuropathy Panel (23 genes)

--Hereditary Sensory Neuropathy Panel (18 genes)

--Metabolic or Syndromic Neuropathies (74 genes)

--Motor and Sensory Neuropathy Panel (82 genes)

--Peripheral Neuropathy Expanded Panel (193 genes)

--Spastic Paraplegia Neuropathy Panel (41 genes)

--SEPT9 Gene, Full Gene Analysis (1 gene)

--Custom Gene Panel

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial 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
G145 Hereditary Custom Gene Panel Tier 1 No, (Bill Only) No
G146 Hereditary Custom Gene Panel Tier 2 No, (Bill Only) No
G147 Hereditary Custom Gene Panel Tier 3 No, (Bill Only) No
G148 Hereditary Custom Gene Panel Tier 4 No, (Bill Only) No
G149 Hereditary Custom Gene Panel Tier 5 No, (Bill Only) No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

 

The following algorithms are available in Special Instructions:

-Inherited Motor Neuron Disease Testing Algorithm

-Neuromuscular Myopathy Testing Algorithm

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Neuromuscular Genetic Panels

Aliases
Lists additional common names for a test, as an aid in searching

Alpha-B crystalline-mutated distal myopathy

ALS

Amyotrophic Lateral Sclerosis

Anderson-Tawil syndrome

Becker muscular dystrophy

Cap myopathy

Central core myopathy

Centronuclear myopathy

Channelopathy-associated insensitivity to pain

Charcot-Marie-Tooth disease type 1A

Charcot Marie Tooth

CMT1A

CMD

Congenital fiber-type disproportion myopathy

Congenital muscular dystrophy

Congenital myasthenic syndrome

Congenital myopathy

Desminopathy

Distal ABD-filaminopathy

Distal anoctaminopathy

Distal myopathy with rimmed vacuoles

Distal myotilinopathy

Distal nebulin myopathy

Distal weakness

Duchenne Muscular Dystrophy

Dystrophinopathies

Dystrophinopathy

EDMD

Emery-Drifuss muscular dystrophy

Hereditary neuralgic amyotrophy

HNA

Hyaline body myopathy

Hyperkalaemic periodic paralysis

Hypokalaemic periodic paralysis

Laing distal myopathy

LGMD

Limb-girdle muscular dystrophy

Markesbery-Griggs

Matrin3 distal myopathy

Metabolic myopathy

Miyoshi myopathy

Motor Neuron Disease

Muscular Dystrophies

Muscular Dystrophy

Myofibrillar Myopathy

Myotonia congenital

Nemaline myopathy

Nondystrophic myotonias

Paramyotonia congenital

Paroxysmal extreme pain disorder

Period paralyses

Period paralysis

PLS

PMA

Primary erythermalgia

Primary lateral sclerosis

Primary Muscular Atrophy

Rhabdomyolysis

Sodium channel myotonia

Tibial muscular dystrophy

Udd myopathy

VCP-mutated distal myopathy

Welander distal myopathy

ZASPopathy

Next Gen Sequencing Test

Custom Gene Ordering

Custom Gene Panel

Custom NGS Panel

Custom ordering

Custom Panels

Custom Sequencing Panels

Custom sequencing test

Customizable Hereditary Panels

Customizable Panels

A la carte

AAAS

AARS

ABCA1

ABCD1

ABHD5

ACAD9

ACADL

ACADM

ACADS

ACADVL

ACTA1

ADCY6

ADGRG6

AGL

AGRN

AIFM1

ALG14

ALG2

ALS2

AMACR

ANG

ANO5

AP1S1

AP4B1

AP4E1

AP4M1

AP4S1

AP5Z1

APOA1

APTX

ARHGEF10

ARSA

ATL1

ATM

ATP7A

B2M

B3GALNT2

B4GALNT1

B4GAT1

BAG3

BCKDHB

BICD2

BIN1

BSCL2

BVES

C12orf65

CACNA1S

CAPN3

CAV3

CAVIN1

CCDC78

CCT5

CFL2

CHAT

CHKB

CHMP2B

CHRNA1

CHRNB1

CHRND

CHRNE

CLCF1

CLCN1

CNTN1

CNTNAP1

COL12A1

COL6A1

COL6A2

COL6A3

COLQ

COQ2

COQ4

COQ6

COQ8A

COQ9

COX10

CPOX

CPT1B

CPT2

CRLF1

CRYAB

CTDP1

CTSA

CYP27A1

CYP2U1

CYP7B1

DAG1

DARS2

DCAF8

DCTN1

DDHD1

DDHD2

DES

DGUOK

DHH

DHTKD1

DMD

DNAJB2

DNAJB6

DNM2

DNMT1

DOK7

DOLK

DPAGT1

DPM1

DPM2

DPM3

DST

DYNC1H1

DYSF

EGR2

EMD

ENO3

ERBB3

ERBB4

ERCC6

ERCC8

ERLIN2

ETFA

ETFB

ETFDH

FA2H

FAH

FAM111B

FAM126A

FAM134B

FBLN5

FBXO38

FGD4

FGF14

FHL1

FIG4

FKRP

FKTN

FLNC

FLVCR1

FMR1

FUS

GAA

GALC

GAN

GARS

GBA2

GBE1

GDAP1

GFPT1

GGPS1

GJB1

GJB3

GJC2

GLA

GMPPA

GMPPB

GNB4

GNE

GOSR2

GSN

GYG1

GYS1

HADHA

HADHB

HARS

HINT1

HK1

HMBS

HNRNPA1

HNRNPA2B1

HNRNPDL

HRAS

HSPB1

HSPB3

HSPB8

HSPD1

IGHMBP2

IKBKAP

INF2

ISPD

ITGA7

KARS

KBTBD13

KCNE3

KCNJ18

KCNJ2

KIF1A

KIF1B

KIF5A

KLHL40

KLHL41

KY

L1CAM

LAMA2

LAMP2

LARGE1

LDB3

LDHA

LITAF

LMNA

LPIN1

LRSAM1

LYST

LAMB2

MAF

MARS

MATR3

MED25

MEGF10

MFN2

MMACHC

MPV17

MPZ

MTM1

MTMR2

MTTP

MUSK

MYF6

MYH14

MYH2

MYH7

MYO18B

MYOT

NAGA

NAGLU

NDRG1

NEB

NEFL

NF2

NGF

NHLRC1

NIPA1

NTRK1

OAT

OPA1

OPTN

ORAI1

PANK2

PDHA1

PDK3

PDSS1

PDSS2

PDYN

PEX10

PEX7

PFKM

PFN1

PGAM2

PGK1

PGM1

PHKA1

PHYH

PLA2G6

PLEC

PLEKHG5

PLOD1

PLP1

PMM2

PMP2

PMP22

PNKP

PNPLA2

PNPLA6

POLG

POMGNT1

POMGNT2

POMK

POMT1

POMT2

PPOX

PREPL

PRKAG2

PRNP

PRPS1

PRX

PYGM

RAB7A

RAPSN

RBCK1

REEP1

RRM2B

RTN2

RYR1

SACS

SBDS

SBF1

SBF2

SCN10A

SCN11A

SCN4A

SCN9A

SCO2

SCP2

SELENON

SETX

SGCA

SGCB

SGCD

SGCG

SH3TC2

SIGMAR1

SLC12A6

SLC16A2

SLC22A5

SLC25A19

SLC25A20

SLC25A46

SLC33A1

SLC52A2

SLC5A7

SMCHD1

SNAP25

SNAP29

SOD1

SOX10

SPAST

SPEG

SPG11

SPG20

SPG21

SPG7

SPTLC1

SPTLC2

SQSTM1

SRPK3

STAC3

STIM1

SURF1

SYNE1

SYT2

TARDBP

TCAP

TDP1

TECPR2

TFG

TIA1

TMEM43

TMEM5

TNNT1

TNPO3

TPM2

TPM3

TRAPPC11

TRDN

TRIM2

TRIM32

TRIM54

TRIM63

TRPA1

TRPV4

TTN

TTPA

TTR

TUBB3

TWNK

TYMP

UBQLN2

VAPB

VCP

VMA21

VPS37A

WASHC5

WNK1

XPA

XPC

YARS

ZFYVE26

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

 

The following algorithms are available in Special Instructions:

-Inherited Motor Neuron Disease Testing Algorithm

-Neuromuscular Myopathy Testing Algorithm

Specimen Type
Describes the specimen type validated for testing

Varies

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

The specific neuromuscular panel requested must be provided in order to perform this test.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

See Specimen Required

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
Frozen
Refrigerated

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes the option of performing 1 of several neuromuscular disease-related panels. Options include the following:

 

Myopathies:

-Myopathy Expanded Panel (141 genes)

-Muscular Dystrophy Panel (77 genes)

-Congenital Myopathy Panel (36 genes)

-Metabolic Myopathy Panel (41 genes)

-Myofibrillar Myopathy Panel (12 genes)

-Distal Myopathy Panel (27 genes)

-Emery-Dreifuss Panel (5 genes)

-Rhabdomyolysis and Myopathy Panel (31 genes)

 

Distal Myopathy + Peripheral Neuropathy:

-Distal Weakness Expanded Panel (217 genes)

(See below for additional peripheral neuropathy testing options available)

 

Motor Neuron Disease:

-Motor Neuron Disease Panel (17 genes)

 

Neuromuscular Junction:

-Congenital Myasthenic Syndromes Panel (25 genes)

 

Hyperexcitable Muscle Disease:

-Skeletal Muscle Channelopathy Panel (6 genes)

 

Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels/)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.

 

See Targeted Genes and Methodology Details for Neuromuscular Genetic Panels in Special Instructions for details regarding the targeted genes for each test.

 

Related Testing:

The following focused hereditary peripheral neuropathy tests are separately available:

-PMPDD / PMP22 Gene, Large Deletion/Duplication Analysis, Varies (1 gene)

-NPPAN / Peripheral Neuropathy Genetic Panels by Next-Generation Sequencing (NGS), Blood

--Hereditary Motor Neuropathy Panel (23 genes)

--Hereditary Sensory Neuropathy Panel (18 genes)

--Metabolic or Syndromic Neuropathies (74 genes)

--Motor and Sensory Neuropathy Panel (82 genes)

--Peripheral Neuropathy Expanded Panel (193 genes)

--Spastic Paraplegia Neuropathy Panel (41 genes)

--SEPT9 Gene, Full Gene Analysis (1 gene)

--Custom Gene Panel

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

 

The following algorithms are available in Special Instructions:

-Inherited Motor Neuron Disease Testing Algorithm

-Neuromuscular Myopathy Testing Algorithm

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Inherited neuromuscular disorders are a diverse group of diseases with heterogeneous genetic causes that affect the peripheral nervous system. The age of onset for these disorders ranges from in utero to old age. Based on the pattern of inheritance; clinical presentation; nerve conductions including, electromyography (EMG) pattern, and muscle and nerve biopsy findings; inherited neuromuscular disorders can be divided into major categories. These categories include muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, ion channel hyperexcitable muscle diseases, metabolic myopathies, congenital myasthenic syndromes, hereditary motor and sensory neuropathies, hereditary motor neuropathies, motor neuron disorders, hereditary spastic paraplegias, and hereditary sensory neuropathies. Due to the considerable overlap in the clinical phenotypes of various neuromuscular disorders, it is often difficult to distinguish these specific inherited disorders from acquired forms without genetic testing. Additionally, even though most myopathies present with proximal shoulder and girdle weaknesses, some forms may present with distal weakness and, thereby, mimic neuropathies. Therefore, genetic testing can be extremely helpful in making the diagnosis. This is especially true for some genetic forms where neurophysiology may be ambiguous, as both neuropathy and myopathy exist simultaneously.

 

Motor Neuron Disease (MND):

MND selectively affect the motor neurons with degeneration. MND include 1) primary lateral sclerosis (PLS), 2) primary muscular atrophy (PMA), and 3) amyotrophic lateral sclerosis (ALS). In PLS and PMA, the motor neuron degeneration is limited to the upper motor neuron and lower motor neuron, respectively. The clinical phenotype of PLS can include gradual progressive leg weakness and spasticity and spastic bulbar weakness. In ALS, the most frequent form of MND, degeneration involves both upper and lower motor neurons and results in progressive muscle weakness, paralysis, and death from respiratory failure, usually within 3 to 5 years of disease onset.

 

Muscular Dystrophy:

Muscular dystrophies are characterized by skeletal muscle wasting. 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. Limb-girdle muscular dystrophy is characterized by weakness and wasting predominately of the hips, shoulders, and proximal extremity 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.

 

Emery-Dreifuss Muscular Dystrophy:

Emery-Dreifuss muscular dystrophy is characterized by the triad of joint contractures, slowly progressive muscle weakness and wasting, and cardiac involvement. Joint contractures usually being in early childhood and predominate in the elbows, ankles, and postcervical muscles. Age of onset, progression, and severity of disease demonstrate inter- and intrafamilial variability.

 

Distal Myopathy:

Distal myopathies are characterized by distal weakness and atrophy that starts in the muscles of the hands or feet and lack of cranial involvement or sensory loss. Distal myopathies are classified based on clinical features, inheritance pattern, and histopathological findings, such as the presence of rimmed vacuoles. Categories of distal myopathies include late adult-onset autosomal dominant forms, adult-onset autosomal dominant forms, early-onset autosomal dominant forms, early-onset autosomal recessive forms, and early adult-onset autosomal recessive forms. Additionally, inclusion body myositis presents with distal muscle weakness and may be in the differential with the distal myopathies.

 

Myofibrillar Myopathy:

Myofibrillar myopathies are characterized by slowly progressive weakness involving the proximal and distal muscles. The clinical phenotype can include peripheral neuropathy, cardiomyopathy, muscle stiffness, aching and cramps. While myofibrillar myopathies are typically adult onset disorders, individuals can present anywhere from early childhood through adulthood.

 

Congenital Myopathy:

Congenital myopathies are characterized by early-onset and specific histopathologic abnormalities on muscle biopsy. The clinical phenotype can include congenital hypotonia, generalized muscle weakness, delayed motor milestones, feeding difficulties, and facial muscle involvement. While congenital myopathies typically occur in childhood, individuals do occasionally present in adulthood. Also, individuals typically have slow progressive weakness, but in some cases the course may be severe.

 

Congenital Myasthenic Syndrome:

Congenital myasthenic syndromes are characterized by fatigable weakness involving ocular, bulbar, and limb muscles. The severity and disease course is highly variable, but individuals usually present in infancy or early childhood. The clinical phenotype associated with a neonatal onset can include feeding difficulties, poor suck and cry, choking spells, eyelid ptosis, and muscle weakness. The clinical phenotype associated with a later childhood onset can include abnormal muscle fatigue, delayed motor milestones, ptosis, and extraocular muscle weakness.

 

Metabolic Myopathy:

Metabolic myopathies are a diverse group of inherited biochemical diseases involving limitation of the use of fuels by skeletal muscle to generate energy. These diseases can be categorized as disorders of lipid metabolism, glycogen and glucose metabolism, or mitochondrial myopathies that impair both lipid and glucose metabolism. Biochemical testing in multiple tissue types including blood, urine, and muscle, can help to determine which category of muscle disease is most likely.

 

Disorders of fatty acid oxidation (FAO) are one category of metabolic myopathies characterized by hypoketotic hypoglycemia, hepatic dysfunction, skeletal myopathy, dilated and hypertrophic cardiomyopathy, and sudden or unexpected death. Mitochondrial fatty acid beta-oxidation plays an important role in energy production, particularly in skeletal and heart muscle, and in hepatic ketone body formation during periods of fasting. Biochemical testing such as urine organic acids, plasma acylcarnitines, and fatty acids can aid in diagnosis. These test results are influenced by dietary factors and the clinical status of the patient, however, which often leads to incomplete diagnostic information or even false-negative results.

 

Disorders of glycogen and glucose metabolism are another category of metabolic myopathies primarily affecting muscle and resulting in exercise intolerance, recurrent rhabdomyolysis, and myoglobinuria. Creatine kinase level is typically elevated during a major event. Muscle biopsy is often performed to verify absence of enzyme activity for the specific type of glycogenosis disease.

 

Polyglucosan body disease involves progressive neurogenic bladder, spasticity and weakness causing gait difficulties from either primary muscle or nerve involvements, sensory loss mainly in the distal lower extremities, and mild cognitive difficulties such as executive dysfunction. Mitochondrial myopathy due to coenzyme Q10 (CoQ10) deficiency is a group of heterogenous diseases. These mitochondrial diseases are characterized by muscle weakness, exercise intolerance, elevated creatine kinase, and abnormal muscle biopsy findings.

 

Skeletal Muscle Channelopathy:

Nondystrophic myotonias are characterized by muscle stiffness generated by voluntary movement. Other features included transient or prolonged weakness, pain associated with myotonia, and fatigue. The nondystrophic myotonias include myotonia congenita, paramyotonia congenital, and sodium channel myotonia. The periodic paralyses are characterized by episodic attacks of weakness often triggered by diet or rest after exercise. They include hyperkalemic periodic paralysis, hypokalemic periodic paralysis, and Andersen-Tawil syndrome.

 

Rhabdomyolysis:

Rhabdomyolysis results from the rapid breakdown of skeletal muscle fibers, which lead to leakage of potentially toxic cellular contents into the blood stream. The clinical severity can range from asymptomatic creatine kinase elevation to a life-threatening disease. The clinical features include acute-onset myalgia, transient muscle weakness, and pigmenturia. Genetic causes of rhabdomyolysis include metabolic muscle disorders, mitochondrial disorders, disorders of intramuscular calcium release and excitation-coupling, and muscular dystrophies.

 

Custom Gene Panel:

Custom gene ordering allows the creation of a custom gene list to tailor testing to a patient’s exact need. After selection of a specific disease state, the custom gene panel can be modified to add or remove genes. Through this option single gene testing can be performed.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

All detected alterations 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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Correlations:

Some individuals who are a carrier or have a diagnosis of a neuromuscular disorder may have a mutation that is not identified by the methods performed (eg, large deletions/duplications, promoter mutations, deep intronic mutations, which are not targeted by this assay). The absence of a mutation, therefore, does not eliminate the possibility of a hereditary neuromuscular disorder. For predictive testing of asymptomatic individuals, it is important to first document the presence of a gene mutation in an affected family member.

 

Test results should be interpreted in context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

Technical Limitations:

In some cases, DNA variants of undetermined significance may be identified.

 

Due to the limitations of next-generation sequencing, small deletions and insertions may not be detected by this test. If a diagnosis of one of the syndromes on this panel is still suspected, contact a molecular genetic counselor in the Genomics Laboratory at 800-533-1710 for more information regarding follow-up testing options.

 

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

 

In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

 

Evaluation Tools:

Multiple in-silico evaluation tools were used to assist in the interpretation of these results. These tools are updated regularly; therefore, changes to these algorithms may result in different predictions for a given alteration. Additionally, the predictability of these tools for the determination of pathogenicity clinically is currently not validated.

 

Alterations classified as benign (common polymorphisms) and known pseudodeficiency alleles are not reported but are available upon request. Known pseudodeficiency alleles may lead to false-positive biochemical results, do not cause disease, and will only be reported when identified with a reportable alteration in the same gene.

 

Reclassification of Variants-Policy:

All detected alterations 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. At this time, it is not standard practice for the laboratory to systematically review "likely pathogenic" alterations or "variants of uncertain significance" that are detected and reported. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Richards CS, 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. Finsterer J, Burgunder JM: Recent progress in the genetics of motor neuron disease. Eur J Med Genet 2014 Feb;57(2-3):103-112

3. Hermans MC, Pinto YM, Merkies IS, et al: Hereditary muscular dystrophies of the heart. Neuromuscul Disord 2010;20(8):479-492

4. Wicklund MP, Kissel JT: The limb-girdle muscular dystrophies. Neurol Clin 2014;32(3):729-749

5. Flanigan KM: The muscular dystrophies. Semin Neurol 2012;32(3):255-263

6. Iannaccone ST, Castro D: Congenital muscular dystrophies and congenital myopathies. Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1509-1534

7. Olive M, Kley RA, Goldfarb LG: Myofibrillar myopathies: new developments. Curr Opin Neurol 2013;26(5):527-535

8. D'Amico A, Bertini E: Congenital myopathies. Curr Neurol Neurosci Rep 2008;8(1):73-79

9. Engel AG, Shen XM, Selcen D, et al: Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol 2015;14(4):420-434

10. Sharp LJ, Haller RG: Metabolic and Mitochondrial Myopathies. Neurol Clin 2014;32(3):777-799

11. Emery AE: Emery-Dreifuss muscular dystrophy-a 40 year retrospective. Neuromusc Disord 2000;10(4-5):228-232

12. Udd B: Distal myopathies. Curr Neurosci Rep 2014;14(3):434

13. Burge JA, Hanna MG: Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr Neurol Neurosci Rep 2012;12(1):62-69

14. Scalco RS, Gardiner AR, Pitceathly RD, et al: Rhabdomyolysis: a genetic perspective. Orphanet J Rare Dis 2015;10:51

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence a mutation in the genes analyzed. See Targeted Genes and Methodology Details for Neuromuscular Genetic Panels in Special Instructions for details regarding the targeted genes for each test.

 

There may be regions of genes that cannot be effectively amplified and sequenced as a result of technical limitations of the assay, including regions of homology, high GC-rich content, and repetitive sequences.

 

Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes. See Targeted Genes and Methodology Details for Neuromuscular Genetic Panels in Special Instructions for details regarding the targeted genes analyzed for large deletions and duplications for each test.

 

Multiplex ligation-dependent probe amplification (MLPA), PCR, and Sanger sequencing are used to confirm alterations detected by NGS when appropriate.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Varies

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

8 to 12 weeks

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

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

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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 US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

Panel

Genes

CPT code

Myopathy Expanded Panel

141

81443

Muscular Dystrophy Panel

77

81443

Congenital Myopathy Panel

36

81443

Metabolic Myopathy Pane

41

81443

Myofibrillar Myopathy Panel

12

81404, 81405 x 2, 81406, 81479

Distal Myopathy Panel

27

81443

Emery-Dreifuss Panel

5

81404, 81405 x 2, 81406, 81479

Rhabdomyolysis and Myopathy Panel

31

81443

Distal Weakness Expanded Panel

217

81443

Motor Neuron Disease Panel

17

81443

Congenital Myasthenic Syndromes Panel

25

81443

Skeletal Muscle Channelopathy Panel

6

81403, 81406 x 2, 81479

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
NMPAN Neuromuscular Genetic Panels In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
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 85069-3
37990 Disclaimer 62364-5
37986 Specimen 31208-2
37987 Source 31208-2
37988 Released By 18771-6
MG119 Gene List ID or NA 48018-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Create a PDF

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports