Limb Girdle Muscular Dystrophy (LGMD) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10401 ANO5 81406,81479 Order Options and Pricing
BVES 81479,81479
CAPN3 81479,81479
CAV3 81404,81479
CRPPA 81405,81479
DES 81405,81479
DNAJB6 81479,81479
DYSF 81479,81479
FKRP 81404,81479
FKTN 81405,81479
GAA 81406,81479
GMPPB 81479,81479
HNRNPDL 81479,81479
LIMS2 81479,81479
LMNA 81406,81479
MYOT 81405,81479
PLEC 81479,81479
PNPLA2 81479,81479
POMGNT1 81406,81479
POMK 81479,81479
POMT1 81406,81479
POMT2 81406,81479
SGCA 81479,81479
SGCB 81479,81479
SGCD 81405,81479
SGCG 81405,81404
SMCHD1 81479,81479
TCAP 81479,81479
TNPO3 81479,81479
TOR1AIP1 81479,81479
TRAPPC11 81479,81479
TRIM32 81479,81479
TTN 81479,81479
VCP 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10401Genes x (34)81479 81404, 81405, 81406, 81479 $890 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 PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Limb girdle muscular dystrophy (LGMD) is a descriptive term for a group of disorders with atrophy and weakness of proximal limb girdle muscles, typically sparing the heart and bulbar muscles. Clinical severity, age of onset, and disease progression are highly variable among the subtypes (Sáenz et al. 2005. PubMed ID: 15689361). Serum creatine kinase levels are typically elevated, and muscle biopsies demonstrate a dystrophic process. For a comprehensive review see Pegoraro et al. 2012. PubMed ID: 20301582.

Genetics

Over twenty genes have been implicated in recessively inherited limb girdle muscular dystrophy: ANO5, CAPN3, CRPPA/ISPD, DYSF, FKRP, FKTN, GMPPB, LIMS2, PNPLA2, SGCA, SGCB, SGCD, SGCG, TCAP, TOR1AIP1, TRAPPC11, TRIM32, PLEC, POMGNT1, POMK, POMT1, POMT2, and GAA. Pathogenic variants in these genes include missense, nonsense, splicing, small deletions/insertions, and a few large deletions/duplications (Human Gene Mutation Database). The CAV3, DES, LMNA, and TTN genes can exhibit both recessive and dominant inheritance.

Dominant forms of limb girdle muscular dystrophy include LGMD1A, LGMD1B, LGMD1C, LGMD1E, LGMD1F, LGMD1G caused by pathogenic variants in the MYOT, LMNA, CAV3, DNAJB6, TNPO3, and HNRNPDL genes, respectively. Another dominantly inherited muscular dystrophy with a limb girdle pattern of weakness is facioscapulohumeral muscular dystrophy 2 (FSHD2). This is caused by the combination of a heterozygous mutation in the SMCHD1 gene on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. Pathogenic variants in the VCP and BVES genes can also cause limb girdle-like weakness and are inherited in an autosomal dominant manner.

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

Clinical Sensitivity - Sequencing with CNV PGxome

In a cohort of 4656 individuals from the United States suspected to have limb girdle muscular dystrophy (LGMD), a molecular diagnosis was established in 27% of cases (Nallamilli et al. 2018. PubMed ID: 30564623). The four most commonly mutated genes were: CAPN3 (17%), DYSF (16%), FKRP (9%) and ANO5 (7%). Childhood onset LGMD is more likely to be caused by defects in the sarcoglycan genes (Vainzof et al. 1999. PubMed ID: 10385046), and late onset LGMD often results from pathogenic variants in the ANO5 gene (Sarkozy et al. 2013. PubMed ID: 23606453). Many of the genes in this panel have no or very few large deletions/duplications reported. However, the DYSF, GAA, and SGCG genes have a higher proportion of gross deletions/duplications reported (Human Gene Mutation Database).

Testing Strategy

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

This panel typically provides 98.7% 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Individuals with a limb girdle pattern of muscle weakness and atrophy.

Diseases

Name Inheritance OMIM ID
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E AD 603511
Facioscapulohumeral Muscular Dystrophy 2 AR 158901
Glycogen Storage Disease Type II AR 232300
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia AD 167320
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
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 2R AR 615325
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, 12 AR 615249
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 AR 614643
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
Neutral Lipid Storage Disease With Myopathy AR 610717

Related Test

Name
PGxome®

Citations

  • Human Gene Mutation Database (Bio-base).
  • Nallamilli et al. 2018. PubMed ID: 30564623
  • Pegoraro et al. 2012. PubMed ID: 20301582
  • Sáenz et al. 2005. PubMed ID: 15689361
  • Sarkozy et al. 2013. PubMed ID: 23606453
  • Vainzof et al. 1999. PubMed ID: 10385046

Ordering/Specimens

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

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