• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit



LAMM; MDC1A; merosin-deficient congential muscular dystrophy

Associated disorders

The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).

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Invitae tests that include this gene:

LAMA2-related congenital muscular dystrophy is the single most common form of congenital muscular dystrophy in most populations. In Europe, 30% of all CMD is caused by LAMA2.

LAMA2 encodes the alpha-2 chain of the heterotrimeric extracellular matrix protein laminin-2 (merosin). In skeletal muscle, laminin-2 binds to alpha-dystroglycan and integrin receptors at its C terminus and to other laminins at its N terminus, thus linking the sarcolemma to the extracellular matrix.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
LAMA2 NM_000426.3