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Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
IGHMBP2
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare inherited disorder characterized by distal muscle weakness and respiratory failure due to diaphragmatic hernia. SMARD1 is caused by mutations in the IGHMBP2 gene located on chromosome 11q13.2 and is clinically and genetically distinct from classic spinal muscular atrophy type 1 (SMA).
Analysis is performed using DNA obtained from peripheral blood (1-5 mL in EDTA) or buccal swabs. Bi-directional sequencing is performed of all 15 coding exons and the exon/intron splice junctions of the IGHMBP2 gene. Carrier testing of relatives and prenatal diagnosis in at-risk pregnancies is available once the mutations in a family have been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Spinal muscular atrophy with respiratory distress type 1; SMARD1; diaphragmatic spinal muscular atrophy; autosomal recessive distal spinal muscular atrophy type 1; DSMA1; distal hereditary motor neuronopathy type VI; dHMN-VI; severe infantile axonal neuropathy with respiratory failure
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