Merosin-Deficient Congenital Muscular Dystrophy (MDC1A) via the LAMA2 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 11441 | LAMA2 | 81408 | 81408,81479 | $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. 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 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.
Clinical Features and Genetics
Clinical Features
Merosin-deficient congenital muscular dystrophy (MDC1A; OMIM 607855) is characterized clinically by muscle weakness, delayed motor milestones, white matter changes, mental retardation, hypotonia, and seizures (Philpot et al. Neuromusc Disord 9:81-85, 1999). However, notable variation in phenotypic severity, age of onset, and disease progression has been reported (Jones et al. J Med Genet 38: 649-657, 2001). Muscle histology includes dystrophic features and adipose infiltration, but other findings typical of Duchenne biopsies are less apparent (Taniguchi et al. Biochem Biophys Res Commun 342: 489-502, 2006).
Genetics
The LAMA2 gene encodes the α-2 subunit of LAMININ-2 (merosin), the main laminin of muscle tissue. MDC1A is inherited as an autosomal recessive disorder. Variants are distributed throughout the coding region, and some genotype-phenotype correlations have been made (http://www.dmd.nl/; Muntoni and Voit, Neuromuscul Disord 14:635-49, 2004). An exon 55 nonsense variant (c.7732C>T; p.Arg2578*) has been found as a recurring cause of MDC1A in individuals with Mexican ancestry (Coral-Vazquez et al. J Hum Genet 48:91-95, 2003).
Clinical Sensitivity - Sequencing with CNV PGxome
Merosin-deficient CMD is thought to account for ~50% of all CMD. Because CMD demonstrates extensive locus and allelic heterogeneity, a negative LAMA2 sequence result does not rule out a diagnosis of this disorder when classic clinical findings are present. If a muscle biopsy is available, immunostaining may also be an appropriate diagnostic approach. Most patients with partial merosin deficiency do not have LAMA2 variants (Tezak et al. Hum Mutat 21:103-11, 2003). In these cases, evaluation of other CMD genes may be a reasonable diagnostic approach.
Testing Strategy
This test provides full coverage of all coding exons of the LAMA2 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 symptoms consistent with CMD. Individuals with immunofluorescence results demonstrating complete merosin deficiency. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LAMA2.
Individuals with symptoms consistent with CMD. Individuals with immunofluorescence results demonstrating complete merosin deficiency. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LAMA2.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| LAMA2 | 156225 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Merosin Deficient Congenital Muscular Dystrophy | AR | 607855 |
Citations
- Coral-Vazquez RM, Rosas-Vargas H, Meza-Espinosa P, Mendoza I, Huicochea JC, Ramon G, Salamanca F. 2003. Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin α-2 gene. Journal of human genetics 48: 0091–0095. PubMed ID: 12601554
- Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN. 2001. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J. Med. Genet. 38: 649–657. PubMed ID: 11584042
- Leiden Muscular Dystrophy pages..
- Muntoni F, Voit T. 2004. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul. Disord. 14: 635–649. PubMed ID: 15351421
- Philpot J, Cowan F, Pennock J, Sewry C, Dubowitz V, Bydder G, Muntoni F. 1999. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromuscul. Disord. 9: 81–85. PubMed ID: 10220862
- Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T. 2006. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? Biochem. Biophys. Res. Commun. 342: 489–502. PubMed ID: 16487936
- Tezak, Z., et.al. (2003). "Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency." Hum Mutat 21(2): 103-11. PubMed ID: 12552556
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
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.