Congenital Muscular Dystrophy (LAMA2) Deletion/Duplication Analysis

Test Overview

Congenital Muscular Dystrophy (LAMA2) Deletion/Duplication Analysis is a genetic test used to detect large deletions or duplications in the LAMA2 gene. Variations in this gene are associated with LAMA2-Related Congenital Muscular Dystrophy, a rare inherited neuromuscular disorder characterized by muscle weakness and delayed motor development.

Why is this Test Recommended?

This test may be advised for individuals with:

• Hypotonia (low muscle tone) from infancy
• Delayed motor milestones
• Progressive muscle weakness
• Elevated creatine kinase (CK) levels
• White matter abnormalities on brain MRI
• Family history of congenital muscular dystrophy
• Previously identified LAMA2 gene variant requiring confirmation of large genomic rearrangements

What Does the Test Detect?

The analysis identifies:

• Large deletions within the LAMA2 gene
• Large duplications within the LAMA2 gene
• Copy number variations (CNVs) that may disrupt normal gene function

Sample Required

• Peripheral Blood

Methodology

• MLPA (Multiplex Ligation-dependent Probe Amplification) or
• NGS-based Copy Number Variation Analysis

Clinical Significance

Detection of a pathogenic deletion or duplication in the LAMA2 gene can:

• Confirm a diagnosis of LAMA2-related congenital muscular dystrophy
• Assist in genetic counseling
• Support family screening and carrier testing
• Aid reproductive planning and prenatal risk assessment

Who Should Consider This Test?

• Infants and children with unexplained muscle weakness
• Individuals suspected of having congenital muscular dystrophy
• Family members of affected individuals
• Couples seeking genetic counseling due to family history

Interpretation

• Positive: A clinically significant deletion or duplication is identified in the LAMA2 gene.
• Negative: No clinically significant deletion or duplication is detected; however, small sequence variants may require additional genetic testing.
• Variant of Uncertain Significance (VUS): A genetic change is identified, but its clinical significance is not yet fully established.

Benefits

✔ Accurate genetic diagnosis
✔ Early clinical management and intervention
✔ Family risk assessment
✔ Informed reproductive decision-making
✔ Supports personalized patient care

Sample Type: Blood
Test Type: Genetic Test
Condition Screened: LAMA2-Related Congenital Muscular Dystrophy
Technology: Deletion/Duplication Analysis (MLPA/NGS-based CNV Detection)