Inborn Errors of Metabolism About Emory Genetics Laboratory (EGL) EGL specializes in genetic diagnostic testing, with 45 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL offers a combined 1100 molecular genetics, biochemical genetics, and cytogenetics tests under one roof and custom testing for all medically relevant genes, for domestic and international clients. Equally important to improving patient care through quality genetic testing is the contribution EGL makes back to the scientific and medical communities. EGL is one of only a few clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>7000 variants on >500 genes) and is also the only laboratory with a free online database (EmVClass), featuring a variant classification search and report request interface, which facilitates rapid interactive curation and reporting of variants.
Inborn Errors of Metabolism EGL offers biochemical and molecular testing for the diagnosis of more than 100 inborn errors of metabolism, including those associated with the disorders detected by the expanded newborn screening (NBS).
Biochemical Testing Metabolic testing available includes: • Organic acid analysis • Acylcarnitine analysis • CoQ10, plasma • Amino acid analysis • Carnitine concentration • CoQ10, leukocyte • Orotic acid • Homocysteine • Methylmalonic acid
Biochemical Panel Testing EGL offers a metabolic panel, which includes amino acid analysis, organic acid quantitative analysis, acylcarnitine analysis, and a carnitine concentration profile. The NBS follow-up metabolic panel includes those same tests and in addition, a homocysteine and methylmalonic acid test (if homocysteine levels are elevated).
Molecular Testing EGL offers follow-up gene sequencing and deletion/duplication analysis to identify mutations, when a biochemical abnormality is detected. Molecular testing provides additional information to help interpret equivocal biochemical test results and also to determine risk for family members or the need for prenatal testing.
Why Choose EGL? • Interlab panels, such as the rhabdomyolysis panel, incorporate biochemical testing and molecular common mutation testing for McArdle’s disease, AMPD1 deficiency, and MCAD deficiency Inborn Errors of Metabolism
Disease Analyte Genes Sequencing Del/Dup Organic Aciduria 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency X HSD17B10 X X 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency X HMGCL X X 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency X MCCC1 and MCCC2 X X FTCD Deficiency/FIGLU-Uria X FTCD X X Glutaric Aciduria, Type 1 X GCDH X X Isovaleric Acidemia (IVA) X IVD X X Malonyl-CoA Decarboxylase Deficiency X MLYCD X Methylmalonic Aciduria - CblA/CblB Deficiency X MMAA and MMAB X X Methylmalonic Aciduria - CblC Deficiency X MMACHC X X Methylmalonic Aciduria - Mutase Deficiency X MUT X X ETFA, ETFB and Multiple Acyl-CoA Dehydrogenase Deficiency X X X ETFDH Multiple CoA Carboxylase Deficiency X HLCS X X Propionic Acidemia X PCCA and PCCB X X Ketothiolase Deficiency X ACAT1 X X SOXCT SCOT Deficiency X OXCT1 X Fatty Acid Oxidation ACAD9 Deficiency X ACAD9 X X Carnitine Deficiency, Primary Carnitine Uptake X SLC22A5 X X Carnitine Palmitoyltransferase 1A Deficiency X CPT1A X X Carnitine Palmitoyltransferase II Deficiency X CPT2 X X Carnitine-Acylcarnitine Translocase Deficiency X SLC25A20 X X SCHAD, Hyperinsulinemic Hypoglycemia X HADH X X Isobutyryl-CoA Dehydrogenase Deficiency X ACAD8 X X Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency X HADHA X X Medium-Chain Acyl-CoA Dehydrogenase Deficiency* X ACADM X X Trifunctional Protein Deficiency X HADHA and HADHB X X Very Long-Chain Acyl-CoA Dehydrogenase Deficiency X ACADVL X X Amino Acidopathy Argininosuccinate Lyase Deficiency X ASL X X Citrullinemia, Type 1 X ASS1 X X Homocystinuria X CBS X X BCKDHA,BCKDHB, Maple Syrup Urine Disease (MSUD)** X X X and DBT MSUD Type III (E3 Deficiency) X DLD X X OTC Deficiency X OTC X X Phenylketonuria (PKU)/Hyperphenylalaninemia X PAH X X Tyrosinemia, Type 1 X FAH X X Other G6PD Deficiency G6PD X X Biotinidase Deficiency** X BTD X X Congenital Hypothyroidism FOXE1 X X Congenital Hypothyroidism PAX8 X X X-Linked Adrenoleukodystrophy ABCD1 X X *Common mutation panel is available. **Enzyme analysis is available. For more information about EGL and the nearly 1100 tests we offer: EMAIL CALL WEB [email protected] 404-778-8499 www.geneticslab.emory.edu