Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of fatty acid oxidation. Newborn screening by tandem mass spectrometry reveals the accumulation of octanoylcarnitine, which is characteristic of MCAD deficiency. Symptoms that typically occur between 6 months to two years include lethargy, hypoglycemia, vomiting, hypotonia, seizures and sudden infant death syndrome. Complications include hepatic dysfunction, respiratory difficulties, cardiac arrest, neurologic deficits and coma. The disorder is characterized by high mortality however milder variants exist and adult onset can occur. Significant phenotypic heterogeneity may occur even within a family.

Tests Available

Forms and Documents

Test Details

ACADM
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2682
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1, 81401x1, 81479x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Chace, D.H. et al, (2002) Annu Rev Genomics, Hum Genet 3:17-45.
  2. Maier, E.M. et al, (2005) Hum Mutat 25:443-52.
  3. Andresen, B.S. et al, (2001) Am J Hum Genet 68:1408-1418.

Forms and Documents

Test Details

ACADM
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

456
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81401x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Andresen, B.S. et al, (2001) Am J Hum Genet 68:1408-1418.
  2. Maier, E.M. et al, (2005) Hum Mutat 25:443-52.
  3. Chace, D.H. et al, (2002) Annu Rev Genomics, Hum Genet 3:17-45.

Forms and Documents

Test Details

ACADM
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2683
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1, 81479x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Andresen, B.S. et al, (2001) Am J Hum Genet 68:1408-1418
  2. Maier, E.M. et al, (2005) Hum Mutat 25:443-52
  3. Chace, D.H. et al, (2002) Annu Rev Genomics, Hum Genet 3:17-45

Forms and Documents

Test Details

ACADM
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2681
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Andresen, B.S. et al, (2001) Am J Hum Genet 68:1408-1418
  2. Maier, E.M. et al, (2005) Hum Mutat 25:443-52
  3. Chace, D.H. et al, (2002) Annu Rev Genomics, Hum Genet 3:17-45