Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a rare disorder of fatty acid oxidation. 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.

Tests Available

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies

Ordering

269
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Corydon M. J. et al, (2001) Pediatr Res 49: 18-23

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

ACAD8, ACADS, ETFA, ETFB, ETFDH, ETHE1
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a creatine deficiency syndrome.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering

J980
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Wolfe L, Jethva R, Oglesbee D, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency. 2011 Sep 22 [Updated 2014 Aug 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017
  2. Roe CR, Cederbaum SD, Roe DS, Sweetman L, et al. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol
  3. Gregersen et al. (2001) Hum Mutat 18 (3):169-189 (PMID: 11524729)
  4. Corydon et al. (2001) Pediatr Res 49(1): 18-23 (PMID: 11134486)
  5. Gallant et al. (2012) Mol Genet Metab 106(1) :55-61 (PMID: 22424739)
  6. Di Meo I, Lamperti C, Tiranti V. Ethylmalonic Encephalopathy. 2017 Sep 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  7. Rinaldo P., Cowan TP, and Matern D. Acylcarnitine profile analysis. Genetics in Medicine. 2008;10(2):151.
  8. Multiple Acyl-CoA Dehydrogenase Deficiency; MADD. omim.org. https://www.omim.org/entry/231680?search=231680&highlight=231680. Updated July 9, 2016. Accessed November 29, 2017.