NGS Neuromuscular Disorders Panel

 

Disorders

Becker/Duchenne Muscular Dystrophy
Bethlem Myopathies
Centronuclear Myopathies
Charcot-Marie-Tooth Neuropathies
Distal Hereditary Motor Neuronopathies
Emery-Dreifuss Muscular Dystrophies
Limb-Girdle Muscular Dystrophies
Mitochondrial Disorders
Miyoshi Muscular Dystrophy
Myasthenic Syndromes
Myofibrillar Myopathies
Myotubular Myopathies
Nemaline Myopathies

Gene Names
ACTA1 CHRNG FHL1 LAS1L POMGNT1 SUCLA2
AGK CLCN1 FIG4 LDB3 POMGNT2 SUCLG1
AMPD1 CNTN1 FKRP LIMS2 POMK SYNE1
ANO5 COL12A1 FKTN LMNA POMT1 SYNE2
ATP2A1 COL6A1 FLNC LMOD3 POMT2 TCAP
ATP7A COL6A2 GAA MATR3 PYGM TIA1
B3GALNT2 COL6A3 GAN MEGF10 RAPSN TK2
B4GAT1 COLQ GARS MGME1 REEP1 TMEM43
BAG3 CRYAB GLE1 MTM1 RRM2B TMEM5
BICD2 DAG1 GMPPB MTMR14 RYR1 TNNI2
BIN1 DCTN1 GNE MUSK SCN4A TNNT1
BSCL2 DES HINT1 MYF6 SELENON TNPO3
CACNA1S DMD HNRNPDL MYH2 SETX TOR1AIP1
CAPN3 DNAJB6 HSPB1 MYH7 SGCA TPM2
CAV3 DNM2 HSPB8 MYOT SGCB TPM3
CAVIN1 DNMT1 IGHMBP2 NEB SGCD TRAPPC11
CCDC78 DOK7 ISPD PABPN1 SGCE TRIM32
CFL2 DPM1 ITGA7 PHKA1 SGCG TRPV4
CHAT DPM2 KBTBD13 PLEC SIL1 TTN
CHKB DPM3 KLHL40 PLEKHG5 SLC25A4 TWNK
CHRNA1 DYNC1H1 KLHL41 PMM2 SLC5A7 TYMP
CHRNB1 DYSF LAMA2 PNPLA2 SMCHD1 UBA1
CHRND EMD LAMP2 POLG SPEG VCP
CHRNE FBXL4 LARGE1 POLG2 STAC3 VRK1
Clinical info

This panel consists of 144 genes that have been associated with inherited neuromuscular diseases. This panel includes nuclear-encoded mitochondrial genes and select storage-disorder genes. Hereditary neuropathies, including Charcot-Marie-Tooth disease, affect the peripheral nervous system and include symptoms of muscle weakness, decreased reflexes, foot deformities, and loss of sensation. Myopathies are associated with weakness and dysfunction of predominantly proximal skeletal muscles, and wasting may occur in later stages of disease. Congenital myasthenic syndromes are caused by disruptions in the transmission of nerve signals to the muscles, and symptoms may involve weakness of muscles involved in swallowing, speech, and breathing or fatigability upon exertion. The muscular dystrophies tend to display progressive muscle weakness and atrophy due to abnormalities in the cellular maintenance of muscle membranes.

These conditions can be inherited in autosomal dominant, autosomal recessive, and X-linked patterns, and each group of disorders exhibits variable clinical presentation, age of onset, degree of severity, and disease progression. In addition to clinical evaluation and genetic testing, diagnosis for these conditions may require electromyogram and nerve conduction studies, muscle biopsy, and CPK and other biochemical testing.

List of Genes and Conditions

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Detection

The current design of the Neuromuscular disorders panel covers the coding region for all 144 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Associated Tests

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 8-10 weeks
Prenatal testing

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81479
Cost $3,500

Insurance billing is available for this test. The Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

NGS Panel Requisition Form

Please submit a completed Requisition Form with all samples.

 

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Molecular Diagnostic Lab Faculty

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