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Comprehensive Neuromuscular Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ACTA1 81479,81479
ADSS1 81479,81479
AGL 81407,81479
AGRN 81479,81479
ALG14 81479,81479
ALG2 81479,81479
ANO5 81406,81479
ATP2A1 81479,81479
B3GALNT2 81479,81479
B4GAT1 81479,81479
BAG3 81479,81479
BICD2 81479,81479
BIN1 81479,81479
BVES 81479,81479
CACNA1S 81479,81479
CAPN3 81479,81479
CASQ1 81479,81479
CAV3 81404,81479
CAVIN1 81479,81479
CCDC78 81479,81479
CFL2 81479,81479
CHAT 81479,81479
CHKB 81479,81479
CHRNA1 81479,81479
CHRNB1 81479,81479
CHRND 81479,81479
CHRNE 81479,81479
CHRNG 81479,81479
CLCN1 81406,81479
CNTN1 81479,81479
COL12A1 81479,81479
COL13A1 81479,81479
COL6A1 81407,81479
COL6A2 81407,81406
COL6A3 81407,81479
COLQ 81479,81479
CRPPA 81405,81479
CRYAB 81479,81479
DAG1 81479,81479
DES 81405,81479
DMD 81408,81161
DNAJB6 81479,81479
DNM2 81479,81479
DOK7 81479,81479
DPAGT1 81479,81479
DPM1 81479,81479
DPM2 81479,81479
DPM3 81479,81479
DYSF 81479,81479
ECEL1 81479,81479
EMD 81405,81404
FBXO38 81479,81479
FHL1 81404,81479
FKRP 81404,81479
FKTN 81405,81479
FLNC 81479,81479
GAA 81406,81479
GBE1 81479,81479
GFPT1 81479,81479
GLDN 81479,81479
GLE1 81479,81479
GMPPB 81479,81479
GNE 81406,81479
HNRNPA1 81479,81479
HNRNPA2B1 81479,81479
HNRNPDL 81479,81479
ISCU 81479,81479
ITGA7 81479,81479
KBTBD13 81479,81479
KLHL40 81479,81479
KLHL41 81479,81479
KLHL9 81479,81479
KY 81479,81479
LAMA2 81408,81479
LARGE1 81479,81479
LDB3 81406,81479
LIMS2 81479,81479
LMNA 81406,81479
LMOD3 81479,81479
MATR3 81479,81479
MEGF10 81479,81479
MICU1 81479,81479
MTM1 81405,81479
MUSK 81479,81479
MYH2 81479,81479
MYH3 81479,81479
MYH7 81407,81479
MYO18B 81479,81479
MYOT 81405,81479
MYPN 81479,81479
NALCN 81479,81479
NEB 81408,81479
PAX7 81479,81479
PFKM 81479,81479
PLEC 81479,81479
PNPLA2 81479,81479
POMGNT1 81406,81479
POMGNT2 81479,81479
POMK 81479,81479
POMT1 81406,81479
POMT2 81406,81479
PREPL 81479,81479
PYGM 81406,81479
PYROXD1 81479,81479
RAPSN 81479,81479
RXYLT1 81479,81479
RYR1 81408,81479
SCN4A 81406,81479
SELENON 81479,81479
SGCA 81479,81479
SGCB 81479,81479
SGCD 81405,81479
SGCG 81405,81404
SIL1 81405,81479
SLC18A3 81479,81479
SMCHD1 81479,81479
SNAP25 81479,81479
SPEG 81479,81479
SQSTM1 81479,81479
STAC3 81479,81479
STIM1 81479,81479
SYNE1 81479,81479
SYT2 81479,81479
TBCK 81479,81479
TCAP 81479,81479
TIA1 81479,81479
TMEM43 81406,81479
TNNI2 81479,81479
TNNT1 81479,81479
TNNT3 81479,81479
TNPO3 81479,81479
TOR1AIP1 81479,81479
TPM2 81479,81479
TPM3 81479,81479
TRAPPC11 81479,81479
TRIM32 81479,81479
TRIP4 81479,81479
TTN 81479,81479
UBA1 81479,81479
UNC80 81479,81479
VCP 81479,81479
VMA21 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10433Genes x (142)81479 81161(x1), 81404(x5), 81405(x9), 81406(x13), 81407(x5), 81408(x4), 81479(x247) $1290 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Neuromuscular disorders (NMDs) are a clinically, pathologically, and genetically heterogeneous group of diseases that impair muscle function or the peripheral nervous system and result in muscle weakness. The clinical diagnosis of these patients is based on clinical presentation, electromyography (EMG), muscle biopsy histopathology, biochemical and genetic testing. Although some NMDs are acquired or pharmaceutical-induced, many have a genetic cause. The age-of-onset of clinical symptoms depends on the specific diagnosis and can range from the neonatal period to adulthood.

The muscular dystrophies are typically diseases of the muscle membrane or supporting proteins and are characterized by ongoing muscle degeneration and regeneration. Patients with a muscular dystrophy can present with elevated creatine kinase (CK) levels, cardiomyopathy, joint contractures, respiratory issues, developmental delay, and in severe cases, brain and eye abnormalities. Myopathies are typically caused by defects in the contractile apparatus of the muscle and are typically considered less progressive than the dystrophies. In general, these patients have muscle weakness and loss in tone and can also exhibit joint contractures, respiratory complications, and spinal deformities. Congenital myasthenic syndromes (CMS) are disorders of the neuromuscular junction resulting from abnormalities of presynaptic, synaptic, or post synaptic proteins. CMS are characterized by fatigable weakness affecting limb, ocular, facial, and bulbar muscles. Neonates present with feeding problems, choking, feeble cry, and muscle weakness.

This panel includes genes for limb girdle muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, myotonias, congenital myasthenic syndrome, and distal arthrogryposis. This panel is intended for patients in whom a muscle disease is suspected. We also offer a comprehensive neuropathy panel.


Neuromuscular disorders are genetically heterogenous and can be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manner.

See individual gene test descriptions for information on clinical features, molecular biology of gene products, and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

The sensitivity of this panel will vary based on the clinical phenotype of the patient and EMG or muscle biopsy results. In an Italian cohort of 504 patients in which 112 similar neuromuscular genes were tested, a definitive molecular diagnosis was made in 43% of patients (Savarese et al. 2016. PubMed ID: 27281536). In another study in which 44 known muscular dystrophy and myopathy genes were analyzed in 55 unrelated Chinese patients with muscle biopsy confirmed MD or congenital myopathy, 36 (65%) were found to have causative pathogenic variants (Dai et al. 2015. PubMed ID: 25987458). In another recent study in which 180 known or candidate myopathy genes were analyzed, a molecular diagnosis was made in 34% of patients (Evilä et al. 2016. PubMed ID: 26627873).

Many of the genes in this panel have no or very few large deletions/duplications reported. However, the CRPPA/ISPD, DMD, DYSF, GAA, LARGE1, and LAMA2 genes have a higher proportion of gross deletions/duplications reported (Human Gene Mutation Database). Approximately two-thirds of the pathogenic variants in Duchenne muscular dystrophy (DMD) patients are deletions of one or more exons in the DMD gene. The occurrence of deletions is slightly higher in Becker muscular dystrophy (BMD) patients. Duplications are found in approximately 10% of DMD patients and 20% of BMD patients (Monaco et al. 1988. PubMed ID: 3384440; Aartsma-Rus et al. 2006. PubMed ID: 16770791).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.3% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Exons 82-105 of the NEB gene are organized in three nearly identical repetitive blocks of 8 exons each making this region difficult to analyze. Since there are six highly homologous alleles, there is some limitation in variant and zygosity calling in this region. If an undocumented or pathogenic variant is detected in this region via NextGen Sequencing, a unique PCR and Sanger sequencing method will be used for confirmation.

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Individuals with general muscle weakness, elevated creatine kinase (CK) levels, muscle biopsy and/or EMG results suggestive of myopathic process.


Official Gene Symbol OMIM ID
ACTA1 102610
ADSS1 612498
AGL 610860
AGRN 103320
ALG14 612866
ALG2 607905
ANO5 608662
ATP2A1 108730
B3GALNT2 610194
B4GAT1 605517
BAG3 603883
BICD2 609797
BIN1 601248
BVES 604577
CACNA1S 114208
CAPN3 114240
CASQ1 114250
CAV3 601253
CAVIN1 603198
CCDC78 614666
CFL2 601443
CHAT 118490
CHKB 612395
CHRNA1 100690
CHRNB1 100710
CHRND 100720
CHRNE 100725
CHRNG 100730
CLCN1 118425
CNTN1 600016
COL12A1 120320
COL13A1 120350
COL6A1 120220
COL6A2 120240
COL6A3 120250
COLQ 603033
CRPPA 614631
CRYAB 123590
DAG1 128239
DES 125660
DMD 300377
DNAJB6 611332
DNM2 602378
DOK7 610285
DPAGT1 191350
DPM1 603503
DPM2 603564
DPM3 605951
DYSF 603009
ECEL1 605896
EMD 300384
FBXO38 608533
FHL1 300163
FKRP 606596
FKTN 607440
FLNC 102565
GAA 606800
GBE1 607839
GFPT1 138292
GLDN 608603
GLE1 603371
GMPPB 615320
GNE 603824
HNRNPA1 164017
HNRNPA2B1 600124
HNRNPDL 607137
ISCU 611911
ITGA7 600536
KBTBD13 613727
KLHL40 615340
KLHL41 607701
KLHL9 611201
KY 605739
LAMA2 156225
LARGE1 603590
LDB3 605906
LIMS2 607908
LMNA 150330
LMOD3 616112
MATR3 164015
MEGF10 612453
MICU1 605084
MTM1 300415
MUSK 601296
MYH2 160740
MYH3 160720
MYH7 160760
MYO18B 607295
MYOT 604103
MYPN 608517
NALCN 611549
NEB 161650
PAX7 167410
PFKM 610681
PLEC 601282
PNPLA2 609059
POMGNT1 606822
POMGNT2 614828
POMK 615247
POMT1 607423
POMT2 607439
PREPL 609557
PYGM 608455
PYROXD1 617220
RAPSN 601592
RXYLT1 605862
RYR1 180901
SCN4A 603967
SELENON 606210
SGCA 600119
SGCB 600900
SGCD 601411
SGCG 608896
SIL1 608005
SLC18A3 600336
SMCHD1 614982
SNAP25 600322
SPEG 615950
SQSTM1 601530
STAC3 615521
STIM1 605921
SYNE1 608441
SYT2 600104
TBCK 616899
TCAP 604488
TIA1 603518
TMEM43 612048
TNNI2 191043
TNNT1 191041
TNNT3 600692
TNPO3 610032
TOR1AIP1 614512
TPM2 190990
TPM3 191030
TRAPPC11 614138
TRIM32 602290
TRIP4 604501
TTN 188840
UBA1 314370
UNC80 612636
VCP 601023
VMA21 310440
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Alpha-B Crystallinopathy AD,AR 608810
Amyotrophic Lateral Sclerosis Type 20 AD 615426
Arthrogryposis Multiplex Congenita Distal Type 1 AD 108120
Arthrogryposis Multiplex Congenita, Distal, X-Linked XL 301830
Arthrogryposis, Distal, Type 2B AD 601680
Arthrogryposis, distal, type 5D AR 615065
Arthrogryposis, Distal, Type 8 178110
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E AD 603511
Autosomal Recessive Centronuclear Myopathy AR 255200
Becker Muscular Dystrophy XL 300376
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy AD 181350
Bethlem Myopathy AD,AR 158810
Bethlem Myopathy 2 AR 616471
Brody Myopathy AR 601003
Cardiomyopathy, Dilated, 1KK AD 615248
Central Core Disease AR 117000
Centronuclear myopathy 5 AR 615959
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay AD 616266
Congenital Disorder Of Glycosylation Type 1E AR 608799
Congenital Disorder Of Glycosylation Type 1I AR 607906
Congenital Disorder Of Glycosylation Type 1O AR 612937
Congenital Disorder of Glycosylation Type Iu AR 615042
Congenital Fiber Type Disproportion AD,AR 255310
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 XL 613153
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B 606612
Congenital Myasthenic Syndrome, Acetazolamide-Responsive AD 614198
Congenital Myotonia, Autosomal Dominant Form 160800
Distal Myopathy Markesbery-Griggs Type AR 600334
Duchenne Muscular Dystrophy XL 310200
Emery-Dreifuss Muscular Dystrophy 1, X-Linked XL 310300
Emery-Dreifuss muscular dystrophy 3, AR 616516
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant AD 612998
Emery-Dreifuss Muscular Dystrophy 7, AD AD 614302
Emery-Dreifuss muscular dystrophy-6 AR 300696
Endplate Acetylcholinesterase Deficiency AD,AR 603034
Facioscapulohumeral Muscular Dystrophy 2 AR 158901
Familial Infantile Myasthenia AR 254210
Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates AR 610542
Fetal Akinesia Deformation Sequence AR 208150
Freeman-Sheldon Syndrome AD 193700
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 AD 616437
Fukuyama Congenital Muscular Dystrophy AR 253800
Glycogen Storage Disease Type II AD 232300
Glycogen Storage Disease Type III AR 232400
Glycogen Storage Disease Type IV AR 232500
Glycogen Storage Disease Type V AR 232600
Glycogen Storage Disease Type VII AR 232800
GNE Myopathy AR 605820
Hereditary Myopathy With Early Respiratory Failure 603689
Hyperkalemic Periodic Paralysis; HYPP AD,AR 170500
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies AR 615419
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 AR 616801
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 AR 616900
Hypotonia-Cystinuria Syndrome AR 606407
Inclusion Body Myopathy 3 AD 605637
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia AR 167320
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 AD 615422
Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 AD 615424
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism AR 616549
Lethal Congenital Contracture Syndrome 1 AR 253310
Lethal congenital contracture syndrome 11 AR 617194
Lethal Congenital Contracture Syndrome 5 AR 615368
Lethal Multiple Pterygium Syndrome AR 253290
Limb-Girdle Muscular Dystrophy, Type 1A AR 159000
Limb-Girdle Muscular Dystrophy, Type 1B AD 159001
Limb-Girdle Muscular Dystrophy, Type 1F AD,AR 608423
Limb-Girdle Muscular Dystrophy, Type 2A AR 253600
Limb-Girdle Muscular Dystrophy, Type 2B AR 253601
Limb-Girdle Muscular Dystrophy, Type 2D AD 608099
Limb-Girdle Muscular Dystrophy, Type 2E AR 604286
Limb-Girdle Muscular Dystrophy, Type 2F AD,AR 601287
Limb-Girdle Muscular Dystrophy, Type 2G AD 601954
Limb-Girdle Muscular Dystrophy, Type 2H AD,AR 254110
Limb-Girdle Muscular Dystrophy, Type 2Y AR 617072
Lipodystrophy, Congenital Generalized, Type 4 AR 613327
Malignant Hyperthermia AD,AR 145600
Malignant Hyperthermia Susceptibility Type 5 AD 601887
Marinesco-Sjogren Syndrome AR 248800
Merosin Deficient Congenital Muscular Dystrophy AR 607855
Minicore Myopathy With External Ophthalmoplegia AR 255320
Miyoshi Muscular Dystrophy 3 AR 613319
Miyoshi Myopathy AR 254130
Muscle Eye Brain Disease AR 253280
Muscular dystrophy, congenital, Davignon-Chauveau type AR 617066
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency AR 613204
Muscular Dystrophy, Congenital, LMNA-Related AD 613205
Muscular Dystrophy, Congenital, Megaconial Type AR 602541
Muscular Dystrophy, Limb Girdle, Type 2C AR 253700
Muscular Dystrophy, Limb-Girdle, Type 1C AD,AR 607801
Muscular Dystrophy, Limb-Girdle, Type 1G AD 609115
Muscular Dystrophy, Limb-Girdle, Type 2J AR 608807
Muscular Dystrophy, Limb-Girdle, Type 2L AR 611307
Muscular Dystrophy, Limb-Girdle, Type 2Q AR 613723
Muscular dystrophy, limb-girdle, type 2S AD,AR 615356
Muscular Dystrophy, Limb-Girdle, Type 2W AR 616827
Muscular dystrophy, limb-girdle, type 2X AR 616812
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10; MDDGA10 AD 615041
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 AR 615249
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 AR 615287
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 AR 615350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 AR 613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 613154
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 AR 614643
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 AR 616538
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 AR 615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 AR 608840
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 613152
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 AR 609308
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 AR 615352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 AR 613158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 AR 613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 AR 611588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 AR 607155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 616052
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 AR 613818
Myasthenia, Limb-Girdle, Familial AR 254300
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326
Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
Myasthenic Syndrome, Congenital, 15, without Tubular Aggregates AR 616227
Myasthenic Syndrome, Congenital, 18 AD 616330
Myasthenic Syndrome, Congenital, 19 AR 616720
Myasthenic syndrome, congenital, 21, presynaptic AR 617239
Myasthenic Syndrome, Congenital, 2A, Slow-Channel AD 616313
Myasthenic syndrome, congenital, 3B, fast-channel 616322
Myasthenic syndrome, congenital, 4A, slow-channel 605809
Myasthenic syndrome, congenital, 4B, fast-channel 616324
Myasthenic Syndrome, Congenital, 7, Presynaptic AD 616040
Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects AR 615120
Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency AR 616325
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency AR 608931
Myasthenic Syndrome, Congenital, Fast-Channel AD,AR 608930
Myasthenic Syndrome, Congenital, Slow-Channel AD 601462
Myasthenic syndrome, congenital, with tubular aggregates 2 AR 614750
Myofibrillar Myopathy, BAG3-Related AD 612954
Myofibrillar Myopathy, Desmin-Related AD,AR 601419
Myofibrillar Myopathy, Filamin C-Related AD 609524
Myofibrillar Myopathy, ZASP-Related AD 609452
Myopathy with Extrapyramidal Signs AR 615673
Myopathy With Lactic Acidosis, Hereditary AR 255125
Myopathy, Centronuclear AD 614807
Myopathy, Centronuclear, 1 AD 160150
Myopathy, Congenital, Compton-North AR 612540
Myopathy, Distal, 1 160500
Myopathy, Distal, 2 AD 606070
Myopathy, Distal, 4 AR 614065
Myopathy, distal, 5 AR 617030
Myopathy, Distal, With Anterior Tibial Onset AR 606768
Myopathy, distal, with rimmed vacuoles 617158
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia AR 614399
Myopathy, Early-Onset, With Fatal Cardiomyopathy 611705
Myopathy, myofibrillar, 7 AR 617114
Myopathy, myofibrillar, 8 AR 617258
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related AD,AR 613869
Myopathy, Myosin Storage AD,AR 608358
Myopathy, Myosin Storage, Autosomal Recessive AR 255160
Myopathy, Reducing Body, X-Linked, Childhood-Onset 300718
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe XL 300717
Myopathy, tubular aggregate AR 160565
Myopathy, vacuolar, with CASQ1 aggregates AD 616231
Myopathy, X-linked, with excessive autophagy XL 310440
Myotilinopathy AD 609200
Myotonia Congenita Autosomal Recessive AR 255700
Native American myopathy AR 255995
Nemaline Myopathy 1 AD,AR 609284
Nemaline Myopathy 10 AR 616165
Nemaline myopathy 11, autosomal recessive AR 617336
Nemaline Myopathy 2 AR 256030
Nemaline Myopathy 3 AD,AR 161800
Nemaline Myopathy 4 AD 609285
Nemaline Myopathy 5 AR 605355
Nemaline Myopathy 6 AR 609273
Nemaline Myopathy 7 AR 610687
Nemaline Myopathy 8 AR 615348
Nemaline Myopathy 9 AR 615731
Neuronopathy, Distal Hereditary Motor, Type IID AD 615575
Neutral Lipid Storage Disease With Myopathy AR 610717
Potassium Aggravated Myotonia AD 608390
Rhabdomyosarcoma Alveolar AR 268220
Rigid Spine Muscular Dystrophy 1 AR 602771
Rippling Muscle Disease AD 606072
Scapuloperoneal Myopathy, Myh7-Related AD 181430
Scapuloperoneal Myopathy, X-Linked Dominant XL 300695
Severe X-Linked Myotubular Myopathy XL 310400
Spinal muscular atrophy with congenital bone fractures 1 AR 616866
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 AD 615290
Ullrich Congenital Muscular Dystrophy AR 254090
Walker-Warburg Congenital Muscular Dystrophy AR 236670
Welander distal myopathy AR 604454

Related Test



  • Aartsma-Rus et al. 2006. PubMed ID: 16770791
  • Dai et al. 2015. PubMed ID: 25987458
  • Evilš et al. 2016. PubMed ID: 26627873
  • Human Gene Mutation Database (Bio-base).
  • Monaco et al. 1988. PubMed ID: 3384440
  • Savarese et al. 2016. PubMed ID: 27281536


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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