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Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
ACADS gene
SCAD is a rare disorder of fatty acid oxidation caused by mutations in the ACADS gene. The presentation is variable, but the phenotype commonly includes one or more of the following: developmental delay, seizures, hypotonia, hypoglycemia, and/or failure to thrive. Some individuals are not identified until later childhood or as adults, when signs of muscle weakness and progressive myopathy may occur. Infants with SCAD deficiency may be identified through newborn screening programs. Follow-up testing for SCAD deficiency may include analysis of acylcarnities and organic acids. Confirmation can be made by molecular analysis of the ACADS gene. In clinically affected patients who had abnormal urine organic acids and low SCAD activity in cultured fibroblasts, sequence analysis identified at least two mutations in more than 95% of cases. However, only a single sequence variant was found in some cases. Two common sequence variations associated with disease susceptibility have been identified (c.625G>A, c.511C>T) and one or both of these is present in the majority of patients.
Using genomic DNA obtained from blood (2mL for infants, 5mL for adults in EDTA) buccal swabs (not accepted on infants) or, bi-directional sequence of the coding region and splice junctions of the ACADS gene (exons 1-10) is analyzed. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
SCADD, HELLP, urine organic analysis, acylcarnitine, urine, urinary, acylglycines, SIDS, enzyme, G625A, C511T, G185S, R147W, ethylmalonic aciduria, newborn screening
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