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Ship specimens to: Billing Information Mayo Clinic Laboratories • An itemized invoice will be sent each month. 3050 Superior Drive NW • Payment terms are net 30 days. Rochester, MN 55901 Call the Business Office with billing related questions: Customer Service: 855-516-8404 800-447-6424 (US and Canada) Visit www.MayoClinicLaboratories.com for the most up-to-date test and shipping information 507-266-5490 (outside the US) T798 ©2019 Mayo Foundation for Medical Education and Research Page 1 of 4 MC0767-16Arev0119 Provider Name Patient Information (required) Provider Name Patient Name (Last, First, Middle)

Birth Date (Month DD, YYYY) ICD-10 Diagnosis Code

AMINO ACID METABOLISM METABOLISM CONGENITAL ADRENAL HYPERPLASIA AAMSD Amino Acids, Maple Syrup Urine Disease CHOU Carbohydrate, Urine CYPZ 21-Hydroxylase (CYP21A2), Full Gene Panel, Plasma GALP Galactose, Quantitative, Plasma Analysis AAQP Amino Acids, Quantitative, Plasma GALU Galactose, Quantitative, Urine CAH21 Congenital Adrenal Hyperplasia Profile for AAPD Amino Acids, Quantitative, Random, Urine 21-Hydroxylase Deficiency Congenital Disorders of Glycosylation AACSF Amino Acids, Quantitative, Spinal Fluid CDG Carbohydrate Deficient Transferrin for CREATINE DISORDERS HCMM Homocysteine (Total), Methylmalonic Acid, Congenital Disorders of Glycosylation, Serum and Methylcitric Acid, Blood Spots CRDPU Creatine Disorders Panel, Urine HCYSS Homocysteine, Total, Serum CDGP Congenital Disorders of Glycosylation Genetic Panels by Next-Generation FATTY ACID METABOLISM (BETA-OXIDATION) HCYSU Homocysteine, Total, Urine Sequencing (NGS) & ORGANIC ACID DISORDERS HGEM Hydroxyglutaric Acids, Glutaric Acid, PMMIL Phosphomannomutase (PMM) and ACRN Acylcarnitines, Quantitative, Plasma Ethylmalonic Acid, and Methylsuccinic Acid, Phosphomannose Isomerase (PMI), Acylcarnitines, Quantitative, Serum Blood Spot ACRNS Leukocytes Acylglycines, Quantitative, Urine HGEMP Hydroxyglutaric Acids, Glutaric Acid, ACYLG Ethylmalonic Acid, and Methylsuccinic Acid, Galactosemia AAQP Amino Acids, Quantitative, Plasma Plasma GATOL Galactitol, Quantitative, Urine AAPD Amino Acids, Quantitative, Random, Urine HGEMS Hydroxyglutaric Acids, Glutaric Acid, GALK Galactokinase, Blood AACSF Amino Acids, Quantitative, Spinal Fluid Ethylmalonic Acid, and Methylsuccinic Acid, GAL1P Galactose-1-Phosphate (Gal-1-P), C4U C4 Acylcarnitine, Quantitative, Urine Serum Erythrocytes C5DCU C5-DC Acylcarnitine, Quantitative, Urine OAU Organic Acids Screen, Urine Galactose-1-Phosphate Uridyltransferase GALT C5OHU C5-OH Acylcarnitine, Quantitative, Urine SUAC Succinylacetone, Blood Spot (GALT), Blood CARN , Plasma TRYPP , Plasma GALTP Galactose-1-Phosphate Uridyltransferase CARNS Carnitine, Serum TRYPU Tryptophan, Urine Biochemical Phenotyping, Erythrocytes GAL14 Galactosemia Gene Analysis (14- CARNU Carnitine, Urine Cystinuria Panel) FAO Fatty Acid Oxidation Probe Assay, CYSQN Cystinuria Profile, Quantitative, 24 Hour, GCT Galactosemia Reflex, Blood Culture Urine GALTZ GALT Gene, Full Gene Analysis FAPCP Fatty Acid Profile, Comprehensive (C8-C26), CYSR Cystinuria Profile, Quantitative, Random, Serum Urine GALE UDP-Galactose 4' Epimerase (GALE), Blood FAPEP Fatty Acid Profile, Essential, Serum Glutamate Formiminotransferase Deficiency Transaldolase and Ribose-5-phosphate (RPI) FAPM Fatty Acid Profile, Mitochondrial (C8-C18), Deficiencies GFDZ FTCD Gene, Full Gene Analysis Serum TALDO Polyols, Quantitative, Urine HCYSU Homocysteine, Total, Urine Maple Syrup Urine Disease OAU Organic Acids Screen, Urine ALLOI Allo-isoleucine, Blood Spot CHOLESTEROL BIOSYNTHESIS & TRANSPORT PMSBB Postmortem Screening, Bile and Blood Spots CTXWB Cerebrotendinous Xanthomatosis, Blood & Homocystinuria CTXP Cerebrotendinous Xanthomatosis, Plasma FATTY ACID METABOLISM (BETA-OXIDATION) MMAP Methylmalonic Acid (MMA), Quantitative, & ORGANIC ACID DISORDERS Plasma GPSYW Glucopsychosine, Blood Deficiency MMAS Methylmalonic Acid (MMA), Quantitative, GPSYP Glucopsychosine, Plasma Serum HSMBS Hepatosplenomegaly Panel, Blood Spot BTDZ Biotinidase Deficiency, BTD Full Gene Analysis MMAU Methylmalonic Acid (MMA), Quantitative, HSMWB Hepatosplenomegaly Panel, Blood Urine BIOTS Biotinidase, Serum HSMP Hepatosplenomegaly Panel, Plasma MHCZ Methylmalonic Aciduria and Homocystinuria, NIEM Niemann-Pick Type C Detection, Carnitine-Acylcarnitine Translocase Deficiency cblC Type, Full Gene Analysis NPCZ Niemann-Pick Type C Disease, Full Gene CACTZ Carnitine-Acylcarnitine Translocase MHDZ Methylmalonic Aciduria and Homocystinuria, Analysis Deficiency, Full Gene Analysis cblD Type, Full Gene Analysis OXYWB Oxysterols, Blood Carnitine Palmitoyltransferase II Deficiency Phenylketonuria Oxysterols, Blood Spots OXYBS CPT2Z Carnitine Palmitoyltransferase II Deficiency, PKU Phenylalanine and Tyrosine, Plasma OXNP Oxysterols, Plasma Full Gene Analysis Phenylalanine and Tyrosine, Blood Spot PKUBS SLO Smith-Lemli-Opitz Screen, Plasma Isovaleric Acidemia STER Sterols, Plasma IVDA Isovaleryl-CoA Dehydrogenase (IVD) Gene Mutation Analysis (A282V)

T798 Page 2 of 4 MC0767-16A Provider Name Patient Information (required) Provider Name Patient Name (Last, First, Middle)

Birth Date (Month DD, YYYY) ICD-10 Diagnosis Code

FATTY ACID METABOLISM (BETA-OXIDATION) LGBWB Globotriaosylsphingosine, Blood MPS Type IIIB (Sanfilippo Type B) & ORGANIC ACID DISORDERS LGBBS Globotriaosylsphingosine, Blood Spot ANAS Alpha-N-Acetylglucosaminidase, Serum Malonyl-Coenzyme A Decarboxylase Deficiency LGB3S Globotriaosylsphingosine, Serum MP3BZ Mucopolysaccharidosis IIIB, Full Gene Analysis MLYCZ MLYCD Gene, Full Gene Analysis Fucosidosis Medium-Chain Acyl-CoA Dehydrogenase FUCW Alpha-Fucosidase, Leukocytes MPS Type IIIC (Sanfilippo Type C) Deficiency MP3CZ Mucopolysaccharidosis IIIC, Full Gene Gaucher Disease MCADZ Medium-Chain Acyl-CoA Dehydrogenase Analysis BGL Beta-Glucosidase, Leukocytes (MCAD) Deficiency Full Gene Analysis MPS Type IIID (Sanfilippo Type D) GBAZ Gaucher Disease, Full Gene Analysis Short-Chain Acyl-CoA Dehydrogenase Deficiency MP3DZ Mucopolysaccharidosis IIID, Full Gene GAUP Gaucher Disease, Mutation Analysis, GBA SCADZ Short-Chain Acyl-CoA Dehydrogenase Analysis GPSY Glucopsychosine, Blood Spot (SCAD) Deficiency, Full Gene Analysis MPS Type IVA (Morquio A) GM1 Gangliosidosis Very Long Chain Acyl-CoA Dehydrogenase G6SW N-Acetylgalactosamine-6-Sulfatase, Deficiency BGAW Beta-Galactosidase, Blood Leukocytes VLCZ Very Long Chain Acyl-CoA Dehydrogenase BGABS Beta-Galactosidase, Blood Spot G6ST N-Acetylgalactosamine-6-Sulfate Sulfatase, Deficiency, Full Gene Analysis BGA Beta-Galactosidase, Leukocytes Fibroblasts MPS Type IVB (Morquio B) FREDREICH Krabbe Disease CBGC Galactocerebrosidase, Leukocytes BGAW Beta-Galactosidase, Blood FFRBS Friedreich Ataxia, Frataxin, Quantitative, Blood Spot KRABZ Krabbe Disease, Full Gene Analysis and BGABS Beta-Galactosidase, Blood Spot Large (30 kb) Deletion, PCR FFRWB Friedreich Ataxia, Frataxin, Quantitative, BGA Beta-Galactosidase, Leukocytes Whole Blood PSYWB Psychosine, Blood MPS Type VI (Maroteaux-Lamy) PSY Psychosine, Blood Spot HYPEROXALURIA MPS6Z Mucopolysaccharidosis VI, Full Gene Lysosomal Acid Lipase Deficiency Analysis AGXTG Alanine:Glyoxylate Aminotransferase (AGXT) LALB Lysosomal Acid Lipase, Blood Arylsulfatase B, Fibroblasts Mutation Analysis (G170R), Blood ARSB LALBS Lysosomal Acid Lipase, Blood Spot AGXTZ AGXT Gene, Full Gene Analysis Mucolipidoses GRHPZ GRHPR Gene, Full Gene Analysis Mannosidosis GNPTZ GNPTAB Gene, Full Gene Analysis HYOX Hyperoxaluria Panel, Urine MANN Alpha-Mannosidase, Leukocytes MCIVP Mucolipidosis IV, Mutation Analysis, IVS3(-2) A->G and del6.4kb Metachromatic Leukodystrophy LYSOSOMAL METABOLISM & STORAGE DISORDERS ARSAZ ARSA Gene, Full Gene Analysis Multiple Sulfatase Deficiency SUMFZ Multiple Sulfatase Deficiency, Full Gene ARSU Arylsulfatase A, 24 Hour, Urine Multi-Disorder Panels Analysis ARSAW Arylsulfatase A, Leukocytes CTSA Ceramide Trihexosides and Sulfatides, Urine Niemann-Pick Types A&B CTSA Ceramide Trihexosides and Sulfatides, Urine GSDP Glycogen Storage Disease Panel by Next- NPABZ Niemann-Pick Disease, Types A and B, Full Generation Sequencing MPS Type I (Hurler/Scheie) Gene Analysis PLSD Lysosomal and Peroxisomal Storage IDSWB Alpha-L-Iduronidase, Blood NPABP Niemann-Pick Disease, Types A and B, Disorders Screen, Blood Spot IDSBS Alpha-L-Iduronidase, Blood Spot Mutation Analysis LSDP Lysosomal Storage Disease Panel by Next- MPS1Z Hurler Syndrome, Full Gene Analysis OXYBS Oxysterols, Blood Spot Generation Sequencing MPSWB Mucopolysaccharidosis, Blood OXNP Oxysterols, Plasma LYSDU Lysosomal Storage Disorders Screen, Urine MPSBS Mucopolysaccharidosis, Blood Spot Neuronal Ceroid Lipofuscinoses MPSSC Mucopolysaccharides (MPS) Screen, Urine NCLP Neuronal Ceroid Lipofuscinosis (NCL, MPSQN Mucopolysaccharides (MPS), Quantitative, MPS Type II (Hunter) Batten Disease) Panel by Next-Generation Urine MPS2Z Hunter Syndrome, Full Gene Analysis Sequencing SFPAN Mucopolysaccharidosis III, Multi-Gene Panel I2SBS Iduronate-2-Sulfatase, Blood Spot TPPTF Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl- OLIGU Oligosaccharide Screen, Urine I2SW Iduronate-2-Sulfatase, Whole Blood Thioesterase 1 (PPT1), Fibroblasts Fabry Disease MPSWB Mucopolysaccharidosis, Blood TPPTL Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl- Mucopolysaccharidosis, Blood Spot Protein Thioesterase 1 (PPT1), Leukocytes AGABS Alpha-Galactosidase, Blood Spot MPSBS AGA Alpha-Galactosidase, Leukocytes MPS Type IIIA (Sanfilippo Type A) AGAS Alpha-Galactosidase, Serum MP3AZ Mucopolysaccharidosis IIIA, Full Gene CTSA Ceramide Trihexosides and Sulfatides, Urine Analysis FABRZ Fabry Disease, Full Gene Analysis

T798 Page 3 of 4 MC0767-16A Provider Name Patient Information (required) Provider Name Patient Name (Last, First, Middle)

Birth Date (Month DD, YYYY) ICD-10 Diagnosis Code

Pompe Disease Second Tier Tests Acute Intermittent Porphyria HEX4 Glucotetrasaccharides, Urine ALLOI Allo-isoleucine, Blood Spot HMBSZ HMBS Gene, Full Gene Analysis PDBS Pompe Disease, Blood Spot CAH2T Congenital Adrenal Hyperplasia (CAH) PBGDW Porphobilinogen Deaminase (PBGD), Washed GAAZ Pompe Disease, Full Gene Analysis Newborn Screen, Blood Spot Erythrocytes PD2T Pompe Disease Second-Tier Newborn GPSY Glucopsychosine, Blood Spot PBGD_ Porphobilinogen Deaminase (PBGD), Whole Screening, Blood Spot HCMM Homocysteine (Total), Methylmalonic Acid, Blood and Methylcitric Acid, Blood Spot Sialidosis Congenital Erythropoietic Porphyria HGEM Hydroxyglutaric Acids, Glutaric Acid, UPGC Uroporphyrinogen III Synthase (Co-Synthase) NEURF Neuraminidase, Fibroblasts Ethylmalonic Acid, and Methylsuccinic Acid, (UPG III S), Erythrocytes Blood Spot Tay-Sachs & Sandhoff Diseases KD2T Krabbe Disease Second-Tier Newborn Erythropoietic Protoporphyria Hexosaminidase A (MUGS), Serum MUGS Screen, Blood Spot FECHZ (FECH) Gene, Full Gene Hexosaminidase A and Total NAGW LPCBS Lysophosphatidylcholines by LC MS/MS, Analysis Hexosaminidase, Leukocytes Blood Spot PEWE Porphyrins Evaluation, Washed Erythrocytes Hexosaminidase A and Total NAGS MPSBS Mucopolysaccharidosis, Blood Spot PEE Porphyrins Evaluation, Whole Blood Hexosaminidase, Serum OXYBS Oxysterols, Blood Spot PPFWE Protoporphyrins, Fractionation, Washed Hexosaminidase A and Total, Leukocytes/ NAGR Erythrocytes Molecular Reflex PD2T Pompe Disease Second-Tier , Blood Spot PPFE Protoporphyrins, Fractionation, Whole Blood HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis PSY Psychosine, Blood Spot Hereditary Coproporphyria SUAC Succinylacetone, Blood Spot CPOXZ CPOX Gene, Full Gene Analysis MITOCHONDRIAL ENERGY METABOLISM Q10 , Reduced and Total, Plasma PEROXISOMAL BIOGENESIS & METABOLISM Porphyria Cutanea Tarda TQ10 Coenzyme Q10, Total, Plasma BAIPD Bile Acids for Peroxisomal Disorders, Serum UPGDW Uroporphyrinogen Decarboxylase (UPG D), Washed Erythrocytes MITOT Combined Mitochondrial Analysis, POXP Fatty Acid Profile, Peroxisomal (C22-C26), Mitochondrial Full Genome and Nuclear Gene Plasma UPGD Uroporphyrinogen Decarboxylase (UPG D), Panel POX Fatty Acid Profile, Peroxisomal (C22-C26), Whole Blood GDF15 Growth Differentiation Factor 15 (GDF15), Serum Variegate Porphyria Plasma PDP Peroxisomal Disorder Panel by Next- PPOXZ PPOX Gene, Full Gene Analysis LAA Lactate, Plasma Generation Sequencing X-linked Dominant Protoporphyria LABF Lactate, Body Fluid PIPA Pipecolic Acid, Serum

MITON Mitochondrial Nuclear Gene Panel by Next- PIPU Pipecolic Acid, Urine PPFWE Protoporphyrins, Fractionation, Washed Generation Sequencing (NGS) XALDZ X-Linked , Full Gene Erythrocytes

MITOP Mitochondrial Full Genome Analysis by Next- Analysis PPFE Protoporphyrins, Fractionation, Whole Blood Generation Sequencing (NGS) PORPHYRIAS PURINE & PYRIMIDINE METABOLISM & UREA PDHC Pyruvate Dehydrogenase Complex (PDHC), CYCLE DISORDERS Fibroblasts APPAN Acute Porphyria, Multi-Gene Panel PYRC Pyruvate, Spinal Fluid PBGU Porphobilinogen, Quantitative, Random, AAPD Amino Acids, Quantitative, Random, Urine PYR Pyruvic Acid, Blood Urine AAUCD Amino Acids, Disorders Panel, FQPPS Porphyrins, Feces Plasma NEWBORN SCREENING PQNU Porphyrins, Quantitative, 24 Hour, Urine OAU Organic Acids Screen, Urine Orotic Acid, Urine Screening Panels PQNRU Porphyrins, Quantitative, Random, Urine OROT PUPYP Purine and Pyrimidine Panel, Plasma LDALD Lysosomal and Peroxisomal Disorders PTP Porphyrins, Total, Plasma Newborn Screen, Blood Spot PUPYU Purine and Pyrimidine Panel, Urine Aminolevulinic Acid Dehydratase Deficiency NBSE Newborn Screening Expanded Panel, Blood Porphyria Spot WILSON DISEASE ALAUR Aminolevulinic Acid (ALA), Urine NBSR Newborn Screen Recommended Panel, CUU Copper, 24 Hour, Urine ALADW Aminolevulinic Acid Dehydratase (ALA-D), Blood Spot CUS Copper, Serum Washed Erythrocytes SMNDX Spinal Muscular Atrophy Diagnostic Assay by WDZ Wilson Disease, Full Gene Analysis Deletion/Duplication Analysis ALAD Aminolevulinic Acid Dehydratase (ALAD), Whole Blood SNS Supplemental Newborn Screen, Blood Spot ADDITIONAL TESTS (INDICATE TEST NUMBER AND NAME)

T798 Page 4 of 4 MC0767-16A