GENETIC TESTING SOLUTIONS FOR: METABOLIC DISORDERS

GENETIC TESTING SOLUTIONS FOR:

METABOLIC DISORDERS

EGL Genetics has nearly 50 years of genetic testing history built upon a strong academic foundation. Our expertise spans common and rare genetic disease testing, genomic variant interpretation, test development and research. As we have grown, we have evolved into a high-science and high-performing CLIA-certified and CAP-accredited laboratory with over 1,100 test offerings across biochemical genetics, cytogenetics, and molecular genetic testing.

COMPREHENSIVE OFFERINGS

Metabolic disorders can present at any age, however the vast majority of cases are now identified by newborn screening. EGL Genetics provides comprehensive diagnostic testing for most inborn errors of metabolism, including biochemical and molecular options. After a diagnosis has been confirmed, follow-up testing to monitor dietary compliance and to make appropriate adjustments is also available.

TEST OFFERINGS FOR THE FOLLOWING:

? Fatty acid oxidations disorders ? Organic acidemias ? Amino acidopathies ? Storage disorders ? Peroxisomal disorders

ADVANTAGES OF PARTNERING WITH EGL GENETICS:

? Board-certified laboratory directors & genetic counselors to answer clinical and analytical questions ? Multiple sample collection options for DNA-based tests. Contact us to determine which collection

option is best for your patient ? Biochemical screening assays can be a valuable first step in identifying affected individuals, and

molecular testing provides confirmation of a diagnosis ? Customizable NGS panels with add-on genes available upon request for no additional charge ? Commitment to accurate sequence variant classification: Free targeted parental testing for up to

two variants of unknown significance following proband only testing, plus complementary periodic variant review and report updates, variant database publicly available, and open data sharing via ClinVar ? Competitive turnaround times for all testing with expedited testing when clinically indicated ? Client portal for convenient result delivery ? Billing experts & insurance specialists available to assist with pricing, payments, insurance coverage, prior-authorizations, and more

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl- | 855-831-7447

METABOLIC DISORDERS (BIOCHEMICAL GENETICS)

DISEASE

Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders

Metabolic Disorders

Metabolic Disorders Metabolic Disorders

Metabolic Disorders Metabolic Disorders

Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders

Metabolic Disorders Metabolic Disorders

Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders Metabolic Disorders

TEST CODE

AR ED AA UA BX CN UC GT

GS

GL GP

HO BMSUD

MW MQ BMMAU BNBSF

OA FP

BSLOS BSTRL BARST BAAST BOAST

TEST NAME

Acylcarnitine Profile, Quantitative and Qualitative, Plasma Amino Acid Profile, Quantitative, Cerebral Spinal Fluid Amino Acid Profile, Quantitative, Plasma Amino Acid Profile, Quantitative, Urine Biotinidase Deficiency: Biotinidase Enzyme Activity, Serum Carnitine Profile, Quantitative, Plasma Carnitine Profile, Quantitative, Urine Galactosemia, Classic (Galactose-1-Phosphate Uridyltransferase Deficiency): GALT Enzyme Activity, Red Blood Cells Galactosemia, Classic: Panel (GALT Enzyme Activity & Galactose-1Phosphate Quantitative), Red Blood Cells Galactosemia: Galactitol Quantitative, Urine Galactosemia: Galactose-1-Phosphate, Quantitative, Red Blood Cells Homocysteine, Total Quantitative, Plasma Maple Syrup Urine Disease: Allo-isoleucine and Branched-Chain Amino Acids, Quantitative, Dried Blood Spot Metabolic Disease: Panel (AA, AR, CN, OA) Methylmalonic Acid, Quantitative, Plasma Methylmalonic Acid, Quantitative, Urine NBS Follow-up: Panel Methylmalonic Acidemia (MMA)/Propionic Acidemia (PA) Organic Acid Profile, Quantitative and Qualitative, Urine Phenylketonuria (Monitoring): Phenylalanine and Tyrosine, Quantitative, Dried Blood Spot Smith-Lemli-Opitz Screen: 7-dehydrocholesterol, Plasma Sterols, Plasma STAT: Acylcarnitine Profile, Plasma STAT: Amino Acid Profile, Plasma STAT: Organic Acid Profile, Quantitative and Qualitative, Urine

METABOLIC DISORDERS (MOLECULAR GENETICS)

DISEASE

Cholesterol Metabolism Disorders Cholesterol Metabolism Disorders Fatty Acid Oxidation Disorders

TEST CODE

SDHCR DDHCR KC

TEST NAME

Smith-Lemli-Opitz Syndrome: DHCR7 Gene Sequencing Smith-Lemli-Opitz Syndrome: DHCR7 Gene Deletion/Duplication Carnitine Deficiency, Primary (Carnitine Uptake Defect): SLC22A5 Gene Sequencing

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl- | 855-831-7447

METABOLIC DISORDERS (MOLECULAR GENETICS)

DISEASE

Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders Galactosemia Galactosemia Galactosemia Galactosemia Galactosemia Galactosemia Homocystiene and Methionine

TEST CODE

KE PX PZ EW EX HQ HR MC DACAD MV GV FZ GE HK HN JU JV IQ JA SG DGALT EY

TEST NAME

Carnitine Deficiency, Primary (Carnitine Uptake Defect): SLC22A5 Gene Deletion/Duplication

Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Sequencing

Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Deletion/Duplication

Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Sequencing

Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Deletion/Duplication

Carnitine-Acylcarnitine Translocase Deficiency: SLC25A20 Gene Sequencing

Carnitine-Acylcarnitine Translocase Deficiency: SLC25A20 Gene Deletion/Duplication

Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Common Mutation Panel

Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Gene Deletion/Duplication

Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Gene Sequencing

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Gene Deletion/Duplication Panel

Trifunctional Protein Deficiency: HADHA & HADHB Gene Sequencing

Trifunctional Protein Deficiency: HADHA & HADHB Gene Deletion/Duplication

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): ACADVL Gene Sequencing

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): ACADVL Gene Deletion/Duplication

Galactosemia (Epimerase): GALE Gene Sequencing

Galactosemia (Epimerase): GALE Gene Deletion/Duplication

Galactosemia (Galactokinase Deficiency): GALK1 Gene Sequencing

Galactosemia (Galactokinase Deficiency): GALK1 Gene Deletion/Duplication

Galactosemia: GALT Gene Sequencing

Galactosemia: GALT Gene Deletion/Duplication

Homocystinuria: CBS Gene Sequencing Metabolism Disorders

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl- | 855-831-7447

METABOLIC DISORDERS (MOLECULAR GENETICS)

DISEASE

Homocystiene and Methionine

Mitochondrial Disease Organic Acidemias/Acidurias

Organic Acidemias/Acidurias

Organic Acidemias/Acidurias

TEST CODE

EZ

MM300 GZ

HD

JY

TEST NAME

Homocystinuria: CBS Gene Deletion/Duplication Metabolism Disorders

Mitochondrial Diseases - Nuclear Genes Only: Sequencing Panel

3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Sequencing

3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Deletion/Duplication

3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Sequencing

Organic Acidemias/Acidurias

Organic Acidemias/Acidurias Organic Acidemias/Acidurias Organic Acidemias/Acidurias Organic Acidemias/Acidurias Organic Acidemias/Acidurias Organic Acidemias/Acidurias

Organic Acidemias/Acidurias Organic Acidemias/Acidurias Organic Acidemias/Acidurias

Organic Acidemias/Acidurias

Organic Acidemias/Acidurias

Organic Acidemias/Acidurias

Organic Acidemias/Acidurias Organic Acidemias/Acidurias

Organic Acidemias/Acidurias Organic Acidemias/Acidurias Organic Acidemias/Acidurias

Organic Acidemias/Acidurias

JZ

JI JJ FX NL JW JX

HF HH SB

NI

SMACH

DMACH

MU NJ

DH NK GQ

GV

3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Deletion/Duplication Biotinidase Deficiency: BTD Gene Sequencing Biotinidase Deficiency: BTD Gene Deletion/Duplication Glutaric Aciduria Type I (GA-I): GCDH Gene Sequencing Glutaric Aciduria Type I (GA-I): GCDH Gene Deletion/Duplication Holocarboxylase Synthetase Deficiency: HLCS Gene Sequencing

Holocarboxylase Synthetase Deficiency: HLCS Gene Deletion/Duplication Isovaleric Acidemia: IVD Gene Sequencing Isovaleric Acidemia: IVD Gene Deletion/Duplication

Maple Syrup Urine Disease (MSUD): BCKD Complex Gene Sequencing

Maple Syrup Urine Disease (MSUD): BCKD Complex Gene Deletion/Duplication

Methylmalonic Aciduria and Homocystinuria, cblC Type: MMACHC Gene Sequencing

Methylmalonic Aciduria and Homocystinuria, cblC Type: MMACHC Gene Deletion/Duplication Methylmalonic Aciduria: MMAA & MMAB Gene Sequencing

Methylmalonic Aciduria: MMAA & MMAB Gene Deletion/Duplication Methylmalonic Aciduria: MUT Gene Sequencing Methylmalonic Aciduria: MUT Gene Deletion/Duplication

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Gene Sequencing Panel

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Gene Deletion/Duplication Panel

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl- | 855-831-7447

METABOLIC DISORDERS (MOLECULAR GENETICS)

DISEASE

Organic Acidemias/Acidurias Organic Acidemias/Acidurias

Peroxisomal disorders Peroxisomal disorders Phenylketonuria

Phenylketonuria

Skin Disorders Skin Disorders Tyrosine Metabolism Disorders Tyrosine Metabolism Disorders Urea Cycle Defects Urea Cycle Defects

TEST CODE

KK KI

MM140 MD140 SK

DPAHX

MM420 MD420 EU EV JB JC

TEST NAME

Propionic Acidemia (PA): PCCA and PCCB Gene Sequencing Propionic Acidemia (PA): PCCA and PCCB Gene Deletion/Duplication Peroxisome Disorders: Sequencing Panel Peroxisome Disorders: Deletion/Duplication Panel Phenylketonuria (PKU): PAH Gene Sequencing and Hyperphenylalaninemias Phenylketonuria (PKU): PAH Gene Deletion/Duplication Panel and Hyperphenylalaninemias Hypohidrotic Ectodermal Dysplasia: Sequencing Panel Hypohidrotic Ectodermal Dysplasia: Deletion/Duplication Panel Tyrosinemia Type I: FAH Gene Sequencing Tyrosinemia Type I: FAH Gene Deletion/Duplication Argininosuccinate Lyase Deficiency: ASL Gene Sequencing Argininosuccinate Lyase Deficiency: ASL Gene Deletion/Duplication

WWEE HHAAVVEETTHHEEAANNSSWWEERRSS. . aCexnopdnesbrotilioisdcehaietnemmyiocoualrelctgeueslnateirntgigcennteeesettidcinssg,wcwiythtitohoguearnfeiontcidcuusss,itanrynr-dalerbaeidodicinhsCgeeoamensxsiepcoealtireldtsgiastetieennygienot.iumcrttoeelesscttiiunnlggarnwegietehdnseatwifciotsch,uocsuytrinoingrdeaunresettdricyis-sle,eaasdeintegsting.

2460 Mountain Industrial Boulevard Tucker, GA 30084 eglg-eeunreotfiicnss..ccoomm || 885555--883311--77444477

PARTNERING WITH

EGL GENETICS

EXPERIENCE MATTERS

Nearly 50 years of comprehensive clinical genetic testing by board-certified ABMGG laboratory directors reporting over 675,000 results- because experience matters. One of the first laboratories in the genetics industry with exome sequencing, gene targeted array CGH, constitutional microarrays, congenital disorders of glycosylation, and rare disease testing.

ORDER THE RIGHT GENETIC TESTS FOR YOUR PATIENTS

EGL offers many subpanels as well as single gene testing to meet the individual needs of your patient. If your patient's clinical presentation warrants more focused testing, EGL is happy to meet that need. To find additional test offerings, including subpanels and specific genes, please visit our website () to search our comprehensive test menu.

For assistance finding a particular gene or test, laboratory genetic counselor can be reached by:

Phone:

(470) 378-2200

Email:

eglgc@egl-

CONTRIBUTIONS TO THE GENETICS COMMUNITY | ClinVar and EmVClass

EGL is committed to ensuring clients and their patients are kept as up-to-date as possible concerning the classification of sequence variants. EGL was one of the first clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>30,000 variants on >1,700 genes) and is also the only laboratory with a free online database (EmVClass), featuring a variant classification search and report quest interface, which facilitates rapid interactive curation and reporting of variants.

WE HAVE THE ANSWERS.

Consolidate your testing needs with our industry-leading expertise in molecular genetics, cytogenetics, and biochemical genetic testing with a focus in rare disease testing.

2460 Mountain Industrial Boulevard Tucker, GA 30084 egl- | 855-831-7447

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