DNA icon

Limb Girdle Muscular Dystrophy Type 2S (LGMD2S) via the TRAPPC11 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11763 TRAPPC11 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11763TRAPPC1181479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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 backbone).

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

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Angela Gruber, PhD

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 girdle muscles and typical sparing of the heart and bulbar muscles. Clinical severity, age of onset, and disease progression are highly variable among the subtypes (Saenz et al. 2005). Serum creatine kinase levels are typically elevated, and muscle biopsies demonstrate a dystrophic process. For a comprehensive review see Pegoraro and Hoffman (2012).

Limb girdle muscular dystrophy type 2S (LGMD2S, OMIM 615356) has been described in a small number of patients demonstrating variable clinical features (Bögershausen et al. 2013). In one family, onset of symptoms occured in early childhood and included proximal weakness leading to impaired ambulation, and muscle pain and cramping.  Weakness was more pronounced in the hip girdle than shoulder girdle. Scoliosis and hip dysplasia were also present in the affected individuals.     

Affected members from two other families, both sharing a common ancestor, displayed a more complex phenotype involving both muscle and movement disorders  (Bögershausen et al. 2013). These subjects displayed mild muscle weakness, choreiform movements, truncal ataxia, and seizures. They also had global developmental delay, mild to moderate intellectual disability, and approximately half of the individuals had mild cerebellar atrophy.    

Affected individuals from all families had mildly elevated serum CpK. 

Genetics

Limb girdle muscular dystrophy type 2S (LGMD2S, OMIM 615356) is inherited as an autosomal recessive disorder. A small number of cases, and only two mutations (one missense and one splicing) of the TRAPPC11 gene (OMIM 614138), have been reported to date (http://www.LOVD.nl/TRAPPC11). The TRAPPC11 protein is a component of a larger complex involved with intracellular vesicle trafficking.

Clinical Sensitivity - Sequencing with CNV PGxome

Too few cases of LGMD2S have been reported to estimate clinical or analytical sensitivity.

Testing Strategy

This test provides full coverage of all coding exons of the TRAPPC11 gene 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 full 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).

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 a limb-girdle distribution of weakness, mildly elevated serum CpK. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TRAPPC11.

Gene

Official Gene Symbol OMIM ID
TRAPPC11 614138
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Muscular dystrophy, limb-girdle, type 2S AR 615356

Citations

  • Bögershausen N, Shahrzad N, Chong JX, Kleist-Retzow J-C von, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, et al. 2013. Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability. The American Journal of Human Genetics 93: 181–190. PubMed ID: 23830518
  • Leiden Muscular Dystrophy pages- TRAPPC11.
  • Pegoraro et al. 2012. PubMed ID: 20301582
  • Sáenz A. et al. Brain 128: 732–42. PubMed ID: 15689361

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.
  • 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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

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

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
×
Copy Text to Clipboard
×