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Congenital Muscular Dystrophy: Sequencing Panel

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Condition Description Detection
Indications
Specimen Requirements

Condition Description   

The congenital muscular dystrophies are a group of genetically and clinically heterogeneous hereditary myopathies characterized by congenital hypotonia and muscle weakness, contractures, and delayed motor development. Muscle biopsy usually reveals a nonspecific dystrophic pattern. The clinical course is broadly variable and can involve the brain and eyes. Initial testing often includes clinical evaluation, muscle imaging, electromyography, and muscle biopsy, followed by targeted genetic testing.

Genes 

B3GALNT2, CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMGNT2, POMT1, POMT2, RYR1, SEPN1, TCAP, TMEM5

Indications 

This test is indicated for:

Confirmation of a clinical diagnosis of congenital muscular dystrophies(CMD).

Methodology

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

Detection 

Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical/biochemical phenotype.

Analytical Sensitivity:~99%.

Specimen Requirements 

Submit only 1 of the following specimen types.

Type: Whole Blood

 Specimen Requirements:

 In EDTA (purple top) tube: Infants (2 years): 3-5 ml

 Older Children & Adults: 5-10 ml.

 Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Isolated DNA

 Specimen Requirements: In microtainer: 60ug

 Isolation using the QiagenTM  Puregene kit for DNA extraction is recommended.

Specimen Collection and Shipping:Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.