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Limb Girdle Muscular Dystrophy Type 1G via the HNRNPDL 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
HNRNPDL 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8429HNRNPDL81479 81479,81479 $990 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.

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).

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.


Genetic Counselors


  • 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 (Sáenz et al. 2005). Serum creatine kinase levels are typically elevated, and muscle biopsies demonstrate a dystrophic process. For comprehensive reviews, see Pegoraro and Hoffman (2012) and Nigro and Savarese (2014).

A large Brazilian family and Uraguayan family have been reported with limb girdle muscular dystrophy type 1G (Starling et al. 2004; Vieira et al. 2014). The Brazilian family had 12 members with mild adult-onset LGMD which age of onset ranging from 30-47 years of age with proximal lower limb weakness in most patients. A unique finding was limitation in finger and toe flexion in almost all individuals (Starling et al. 2004). The Uraguayan family with 18 affected members also presented with a similar late-onset LGMD, with the same finger and toe flexion limitation. In addition, 6 of 11 clinically affected individuals also presented with cataracts with onset before age 50 (Vieira et al. 2014).


Limb girdle muscular dystrophy type 1G is an autosomal dominant disorder caused by defects in the HNRNPDL gene, located on chromosome 4q21.22 (Vieira et al 2014). The HNRNPDL gene encodes for a heterogenous ribonucleoprotein family member, which participates in mRNA biogenesis and metabolism. To date, only two missense variants that alter the same amino acid (p.Asp378Asn and p.Asp378His) have been reported in two large families with limb girdle muscular dystrophy type 1G. A few asymptomatic carriers were also observed, suggesting there is reduced penetrance for this disorder.

Clinical Sensitivity - Sequencing with CNV PGxome

Too few cases of LGMD1G have been reported to provide a numeric estimate of clinical or analytical sensitivity. However, pathogenic variants in HNRNPDL appear to be a rare cause of limb girdle muscular dystrophy. Analytical sensitivity could be high as all reported pathogenic variants are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the HNRNPDL 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.


Official Gene Symbol OMIM ID
HNRNPDL 607137
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Muscular Dystrophy, Limb-Girdle, Type 1G AD 609115


  • Nigro V., Savarese M. 2014. Acta Myologica. 33: 1-12. PubMed ID: 24843229
  • Pegoraro E., Hoffman E.P. 2012. Limb-Girdle Muscular Dystrophy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301582
  • Sáenz A. et al. Brain 128: 732–42. PubMed ID: 15689361
  • Starling A. et al. 2004. European Journal of Human Genetics. 12: 1033-40. PubMed ID: 15367920
  • Vieira N.M. et al. 2014. Human Molecular Genetics. 23: 4103-10. PubMed ID: 24647604


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