Metabolic Disorders
Emory Genetics Laboratory (EGL) offers complementary biochemical and molecular testing for more than 100 different inborn errors of metabolism, including all the disorders detected by expanded newborn screening. This testing includes standard analyte tests such as organic acid analysis, acylcarnitine analysis, amino acid analysis, and carnitine concentration, as well as specific analyte tests such as orotic acid, homocysteine, and methylmalonic acid.

Biochemical Testing
EGL offers panels that combine several biochemical tests. The Genetic Metabolic Panel offers a combination of plasma acylcarnitines, amino acids, and carnitine, in addition to urine organic acids. The NBS Follow-up: Elevated C3 Panel includes plasma acylcarnitines, amino acids, carnitine, and homocysteine; and urine organic acids.  Plasma methylmalonic acid also can be added if homocysteine is elevated.  

Requested specimen volumes are calculated to minimize the volume of blood collected from patients.  Results are also conveniently reported in one integrated report with a summary interpretation that includes results and recommendations based on all the individual tests included in the panel.

Molecular Testing
EGL offers complementary gene sequencing and deletion/duplication analyses to identify the mutations when a biochemical abnormality is detected. Molecular testing provides additional information to help in the interpretation of equivocal biochemical test results. It also provides the information needed to determine risk for other family members and for prenatal testing.

Available Metabolic Testing
(Click on the icon for more information about each test)

Metabolic Disorder Analyte Gene Sequencing
Del/Dup
Organic aciduria
   2-Methyl-3Hydroxybutyryl-CoA
   Dehydrogenase Deficiency
 HSD17B10
   3-Hydroxy-3-Methylglutaryl-CoA
   Lyase Deficiency		 HMGCL
   3-Methylcrotonyl-CoA Carboxylase
   (3-MCC) Deficiency		 MCCC1 and MCCC2
   FTCD Deficiency/FIGLU-Uria FTCD
   Glutaric Aciduria, Type 1 GCDH
   Isovaleric Acidemia (IVA) IVD
   Malonyl-CoA Decarboxylase
   Deficiency		 MLYCD
   Methylmalonic Aciduria - CblA/CblB
   Deficiency		 MMAA and MMAB
   Methylmalonic Aciduria - CblC
   Deficiency		 MMACHC
   Methylmalonic Aciduria - Mutase
   Deficiency		 MUTYH
   Multiple Acyl-CoA Dehydrogenase
   Deficiency		 ETFA, ETFB and ETFDH
   Multiple CoA Carboxylase
   Deficiency		   HLCS
   Propionic Acidemia   PCCA and PCCB
   Ketothiolase Deficiency   ACAT1
   SOXCT SCOT Deficiency   OXCT1
Fatty acid oxidation
   ACAD9 Deficiency ACAD9
   Carnitine Deficiency, Primary
   Carnitine Uptake		 SLC22A5
   Carnitine Palmitoyltransferase 1A
   Deficiency		 CPT1A
   Carnitine Palmitoyltransferase II
   Deficiency		 CPT2
   Carnitine-Acylcarnitine Translocase
   Deficiency		 SLC25A20
   SCHAD, Hyperinsulinemic
   Hypoglycemia		 HADH
   Isobutyryl-CoA Dehydrogenase
   Deficiency		 ACAD8
   Long-Chain 3-Hydroxy Acyl-CoA
   Dehydrogenase Deficiency		 HADHA
   Medium-Chain Acyl-CoA
   Dehydrogenase Deficiency*		 ACADM
   Trifunctional Protein Deficiency HADHA and HADHB
   Very Long-Chain Acyl-CoA
   Dehydrogenase Deficiency		 ACADVL
Amino acidopathy
   Argininosuccinate Lyase Deficiency ASL
   Citrullinemia, Type 1 ASS1
   Homocystinuria CBS
   Maple Syrup Urine Disease
   (MSUD)**		 BCKDHA, BCKDHB, and DBT
   MSUD Type III (E3 Deficiency) DLD
   OTC Deficiency OTC
   Phenylketonuria
   (PKU)/Hyperphenylalaninemia		 PAH
   Tyrosinemia, Type 1 FAH
Other
   G6PD Deficiency
G6PD
   Biotinidase Deficiency** BTD
   Congenital Hypothyroidism
FOXE1
   Congenital Hypothyroidism
PAX8
   X-Linked Adrenoleukodystrophy
ABCD1

* Common mutation panel is available
** Enzyme analysis is available

 How do I order testing from EGL?
Emory Genetics Laboratory offers three test ordering methods (click on the ordering method below to learn more):

   • Manual Requisitions (Click image below for Metabolic/NBS Disorders Requisition)
   • Custom Requisitions
   • Online Ordering