Biochemical Tests

1 2 3 4 5 6 A B C D E F G H I K L M N O P Q R S T U V W X Z

 

1 

11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency Test
 

2 

2,4-Dienoyl-CoA Reductase Deficiency Test
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
 

3 

3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia Test
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
3-Methylcrotonyl-CoA Carboxylase Deficiency Test
3-Methylglutaconic Aciduria Type 1 Test
3-O-Methyldopa (Plasma)
 

4 

4-Hydroxybutyric acid (CSF)
 

5 

5-Methyltetrahydrofolate (CSF)
 

6 

6-Pyruvoyltetrahydropterin Synthase Deficiency Test
 

A 

Abnormal Newborn Screening (Elevated C3): Panel (AA, AR, CN, HO, OA)
AChE (automatic reflex after AF-AFP)
Acid beta-galactosidase deficiency
Acid Lipase-A
Acid Lipase-F
Acid Lipase-W
Acid Sphingomyelinase Deficiency Test
Acide Lipase-L
Acute Hepatic Porphyria Test
Acute Intermittent Porphyria Test
Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency Test
Acylcarnitine profile
Acylcarnitine Profile, Quantitative and Qualitative, Plasma
ADAMTS13 Activity
Adenosine Deaminase Deficiency Test
Adenosine Deaminase Test
Adenosine Deaminase-A
Adenosine Deaminase-F
Adenosine Deaminase-R
Adenosine Deaminase-V
Adenosine Deaminase-W
Adenylosuccinase Deficiency Test
Adrenoleukodystrophy, X-Linked Test
Aldolase A deficiency
Alkaptonuria Test
Alpha aminoadipic semialdehyde (Urine)
Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype
Alpha-aminoadipic semialdehyde (CSF)
Alpha-Galactosidase-F
Alpha-Galactosidase-W
Alpha-L-Iduronidase-F
Alpha-L-Iduronidase-W
Alpha-Mannosidosis Test
Alpha-Mannosidosis: Alpha-Mannosidase Enzyme Activity, Leukocytes
Alpha-Methylacyl-CoA Racemase Deficiency Test
Amino Acid Analysis - Cerebrospinal Fluid
Amino Acid Analysis - Plasma
Amino Acid Analysis - Urine
Amino Acid Profile, Quantitative, Cerebral Spinal Fluid
Amino Acid Profile, Quantitative, Plasma
Amino Acid Profile, Quantitative, Urine
Amino Acid, CSF
Amino acids (CSF)
Amino Acids (Plasma)
Amino acids (plasma/serum, CSF)
Amino acids (urine)
Amino Acids, Plasma
Amino Adipic Aciduria Test
Amniotic fluid AFP
Arginase Deficiency Test
Arginase-L
Arginase-R
Argininosuccinate Lyase Deficiency Test
Argininosuccinate Lyase Enzyme Analysis, Liver
Argininosuccinate Lyase Enzyme Analysis, Prenatal Diagnosis, Amniocytes
Argininosuccinate Lyase Enzyme Analysis, Prenatal Diagnosis, CVS
Argininosuccinate Lyase Enzyme Analysis, Red Blood Cells
Argininosuccinate Lyase Enzyme Analysis, Skin Fibroblast Culture
Argininosuccinate Synthetase-A
Argininosuccinate Synthetase-F
Argininosuccinate Synthetase-L
Argininosuccinate Synthetase-V
Aromatic L-Amino Acid Decarboxylase Deficiency Test
Aromatic L-Amino acid Decarboxylase Enzyme Analysis (Plasma)
Arylsulfatase A Deficiency Test
Arylsulfatase A-F
Arylsulfatase A-W
Aspartylglucosamine Aminohydrolase-F
Aspartylglucosaminuria Testing in WBC and Fibroblasts
Aspartylglycosaminuria Enzyme Analysis
Aspartylglycosaminuria Test
ATP7A-Related Copper Transport Disorders Test
Autism Panel - Biochemistry 3-Plex
Autism Panel - Biochemistry 5- Plex
Autism Panel - Biochemistry 8-Plex
Autism Panel: Complete Tier 1
Autism Panel: Tier 1 Biochemical
 

B 

Beta-Galactosidase-F
Beta-Galactosidase-W
Beta-Mannosidosis Test
Beta-Mannosidosis: Beta-Mannosidase Enzyme Activity, Leukocytes
Beta-Ureidopropionase Deficiency Test
BH4-Deficient Hyperphenylalaninemia C Test
Bile Acids Panel-Plasma
Bile Acids Panel-Urine
Biochemical markers of acute porphrias
Biopterin Metabolite
Biotinidase Deficiency Test
Biotinidase Deficiency: Biotinidase Enzyme Activity, Serum
Biotinidase-S
 

C 

Canavan Disease Test
Carbamoylphosphate Synthetase I Deficiency Test
Carbamylphophate Synthetase-L
Carnitine Biosynthesis Panel - CSF
Carnitine Biosynthesis Panel - Plasma
Carnitine Biosynthesis Panel - Urine
Carnitine Determination - Plasma
Carnitine levels, free and total (plasma,serum)
Carnitine levels, free and total (urine)
Carnitine Palmitoyltransferase IA Deficiency Test
Carnitine Palmitoyltransferase II Deficiency Test
Carnitine Profile, Quantitative, Plasma
Carnitine Profile, Quantitative, Urine
Carnitine, Plasma
Carnitine-Acylcarnitine Translocase Deficiency Test
Carnosinemia Test
cblC Test
cblD (variant 1) Test
cblD (variant 2) Test
cblD Test
cblF Test
CD46 (MCP) Expression
CD46 expression
CDT
Cerebrospinal Fluid Succinyladenosine
Cerebrotendinous Xanthomatosis Test
Chitotriosidase Deficiency Test
Chondrodysplasia Punctata 2, X-Linked Test
Citrullinemia Type I Test
Citrullinemia Type II Test
Coenzyme Q10 Deficiency Test
Coenzyme Q10, Quantitative, Leukocytes
Coenzyme Q10, Quantitative, Muscle
Coenzyme Q10, Quantitative, Plasma
Complement factor serum screen
Congenital Adrenal Hyperplasia: Steroid Profile, Quantitative, Dried Blood Spot
Congenital Disorders of Glycosylation Test
Congenital Disorders of Glycosylation: Carbohydrate Deficient Transferrin Analysis, Plasma
Congenital Disorders of Glycosylation: N-Glycan Profile, Qualitative, Plasma
Congenital Disorders of Glycosylation: O-glycan Analysis, Quantitative and Qualitative, Plasma
Congenital Disorders of Glycosylation: Panel, Carbohydrate Deficient Transferrin Analysis and N-Glycan Profile, Plasma
Congenital Erythropoietic Porphyria Test
Corticosterone Methyloxidase Type I Deficiency Test
Corticosterone Methyloxidase Type II Deficiency Test
Creatine and Guanidinoacetate (Plasma)
Creatine and Guanidinoacetate (Urine)
Creatine and Guanidinoacetate Determination - Plasma
Creatine and Guanidinoacetate Determination - Urine
Creatine Panel
Creatine Quantitation in Plasma and Urine
Creatine/guanidinoacetate (plasma/serum)
Creatine/guanidinoacetate (urine)
CSF Analyte for Pyrodoxine-Dependent Seizures
CYP2C19 Genotyping (Plavix Sensitivity)
Cystinosis Test
Cystinuria Test
 

D 

D-2-Hydroxyglutaric Aciduria 1 Test
D-2-Hydroxyglutaric Aciduria 2 Test
D-Glycericacidemia Test
Danon Disease Test
Desmosterolosis
Desmosterolosis Test
Dihydropteridine Reductase
Dihydropyrimidinase Deficiency Test
Dihydropyrimidine Dehydrogenase Deficiency Test
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency Test
Dopamine Beta-Hydroxylase Deficiency Test
Dried Blood Spot Lysosomal Enzyme Panel
Dubin-Johnson Syndrome Test
Dysferlinopathy Test
 

E 

Ehlers-Danlos Syndrome, Kyphoscoliotic Form Test
Erythropoietic Protoporphyria, Autosomal Recessive Test
Ethylmalonic Encephalopathy Test
 

F 

Fabry Disease Test
Fabry Disease Test in WBC and fibroblast
Fabry Disease: Alpha-Galactosidase Enzyme Activity, Dried Blood Spot
Fabry Disease: Alpha-Galactosidase Enzyme Activity, Leukocytes
Fabry Disease: Globotriaosylceramide (Gb3) Quanitifcation, Urine
Familial Transthyretin Amyloidosis Test
Fanconi Anemia Test
Farber Lipogranulomatosis Test
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency Test
Fatal Infantile Lactic Acidosis Test
Fatty Acid Oxidation Disorders Test
Folate receptor antibody assay (CSF)
Folate receptor antibody assay (Plasma/Serum)
Free Sialic Acid Quantification, Urine
Free Sialic Acid Storage Disorders Test
Friedreich Ataxia Test
Fructose 1,6 Bisphosphatase Deficiency Test
Fucosidosis Test
Fucosidosis: Alpha-Fucosidase Enzyme Activity, Leukocytes
Fumarate Hydratase Deficiency Test
 

G 

GABA-Transaminase Deficiency Test
Galactocerbroside-Beta-Galactosidase-F
Galactocerbroside-Beta-Galactosidase-W
Galactokinase Deficiency Test
Galactose 1-phosphate uridyltransferase, Whole Blood
Galactose-1 Phosphate Test
Galactosemia (GALT) Enzyme Activity and 9 Mutations
Galactosemia Test
Galactosemia, Classic (Galactose-1-Phosphate Uridyltransferase Deficiency): GALT Enzyme Activity, Red Blood Cells
Galactosemia, Classic: Carrier Testing (GALT Enzyme Activity), Red Blood Cells
Galactosemia, Classic: Panel (GALT Enzyme Activity and Galactose-1-Phosphate Quantitative), Red Blood Cells
Galactosemia, Non-Classic (Epimerase Deficiency): GALE Enzyme Activity, Red Blood cells
Galactosemia, Non-Classic (Galactokinase Deficiency): GALK Enzyme Activity, Red Blood Cells
Galactosemia, Non-Classic: Panel (GALK and GALE Enzyme Activities and Galactose-1-Phosphate, Quantitative), Red Blood Cells
Galactosemia: Galactitol Quantitative, Urine
Galactosemia: Galactose-1-Phosphate, Quantitative, Red Blood Cells
Galactosialidosis Test
Gaucher Disease
Gaucher Disease Test
Gaucher Disease: Angiotensin Converting Enzyme (ACE) Enzyme Activity, Serum
Gaucher Disease: Beta-Glucosidase Enzyme Activity, Leukocytes
Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP) Enzyme Activities, Serum
Gaucher Disease: Chitotriosidase (CHITO) Enzyme Activity, Serum
Gaucher Disease: Tartrate Resistant Acid Phosphatase (TRAP) Enzyme Activity, Serum
GBE1-Related Disorders Test
GLB1-Related Disorders Test
Global Cerebral Hypomyelination Test
Global Metabolomic Assisted Pathway Screen
Glucose (CSF)
Glucose (Plasma)
Glucose Phosphate Isomerase Deficiency Test
Glucose-6-Phosphate Dehydrogenase Deficiency Test
Glutaricacidemia Type 1 Glutarylcarnitine (C5-DC) Test
Glutaricacidemia Type 1 Test
Glutathione Synthetase Deficiency Test
Glycerol Kinase Deficiency Test
Glycine Encephalopathy Test
Glycogen Storage Disease Type Ia Test
Glycogen Storage Disease Type II (Pompe Disease) Test
Glycogen Storage Disease Type III Test
Glycogen Storage Disease Type V Test
Glycogen Storage Disease Type VI Test
Glycogen Storage Disease Type VII Test
Glycogen Storage Disease Type X Test
Glycogen Storage Disease XI Test
GM1-gangliosidosis / Morquio B
GM2 Activator Deficiency Test
GNPTAB-Related Mucolipidoses Test
GNPTAB-Related Mucolipidosis Test
Greenberg Dysplasia Test
GTP Cyclohydrolase 1-Related Disorders Test
Guanidinoacetate (GAA) and Creatine Test
Guanidinoacetate Methyltransferase Deficiency Test
 

H 

HADH-Related Hyperinsulinism Test
Hartnup Disease Test
Hawkinsinuria Test
Hemoglobin Evaluation Reflexive Cascade
Hereditary Coproporphyria Test
Hereditary Fructose Intolerance Test
Hex4
Hexosaminidase A and B Enzyme Analysis
Hexosaminidase A Deficiency
Hexosaminidase A Deficiency Test
Histidinemia Test
Holocarboxylase Synthetase Deficiency Test
Homocysteine
Homocysteine Determination - Plasma
Homocysteine, Total Quantitative, Dried Blood Spot
Homocysteine, Total Quantitative, Plasma
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Test
Hydrops Enzyme Panel
Hydroxyprolinemia Test
Hyper IgD Syndrome Test
Hyper-Beta-Alaninemia Test
Hyperlysinemia Test
Hypermethioninemia due to Adenosine Kinase Deficiency Test
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Test
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Test
Hyperoxaluria, Primary, Type 1 Test
Hyperoxaluria, Primary, Type 2 Test
Hyperprolinemia, Type I Test
Hyperprolinemia, Type II Test
Hypoxanthine Phophoribosyltransferase-A
Hypoxanthine Phophoribosyltransferase-F
 

I 

Ichthyosis, X-Linked Test
In vitro test for fatty acid oxidation disorders
Isobutyryl-CoA Dehydrogenase Deficiency Test
Isolated Persistent Hypermethioninemia Test
Isovaleric Acidemia Test
 

K 

Kanzaki disease Test
Ketothiolase Deficiency Test
Krabbe Disease Enzyme
Krabbe Disease Test
Krabbe Disease: Galactocerebrosidase Enzyme Activity, Dried Blood Spot
 

L 

L-2-Hydroxyglutaric Aciduria Test
L-Arginine:Glycine Amidinotransferase Deficiency Test
Lactate (CSF)
Lactate (plasma)
LAMA2-Related Muscular Dystrophy Test
Lathosterolosis
Lathosterolosis Test
Lecithin Cholesterol Acyltransferase Deficiency Test
Leigh Syndrome (nuclear DNA mutation) Test
Leigh Syndrome, French-Canadian Type Test
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Test
Lynch Syndrome: Immunohistochemistry for MLH1
Lynch Syndrome: Immunohistochemistry for MSH2
Lynch Syndrome: Immunohistochemistry for MSH6
Lynch Syndrome: Immunohistochemistry – MLH1, MSH2, MSH6, and PMS2 Panel
Lysinuric Protein Intolerance Test
Lysosomal Acid Lipase
Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency Test
Lysosomal Enzyme Panel
Lysosomal Storage Disease: Glycosaminoglycans (GAGs) and Oligosaccharide Profile, Urine
Lysosomal Storage Disease: Panel Enzyme Activity (13 Enzymes), Leukocytes
 

M 

Malonyl-CoA Decarboxylase Deficiency Test
MAOA and other neurotransmitters
Maple Syrup Urine Disease Test
Maple Syrup Urine Disease: Allo-isoleucine and Branched-Chain Amino Acids, Quantitative, Dried Blood Spot
Maple Syrup Urine Disease: BCKD Enzyme Activity, Fibroblasts
Maple Syrup Urine Disease: BCKD Enzyme Activity, Lymphoblasts
Medium Chain 3-Ketothiolase Deficiency Test
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Test
Metabolic Disease: Panel (AA, AR, CN, OA)
Metachromatic Leukodystrophy due to Saposin B Deficiency Test
Metachromatic Leukodystrophy: Arylsulfatase A Enzyme Activity, Leukocytes
Methemoglobin Reductase (Cytochrome b5 Reductase) Deficiency Test
Methylmalonate Semialdehyde Dehydrogenase Deficiency Test
Methylmalonic Acid - Plasma
Methylmalonic Acid and Methylcitric Acid, Quantitative, Dried Blood Spot
Methylmalonic Acid, Quantitative, Plasma
Methylmalonic Acid, Quantitative, Urine
Methylmalonic Acidemia Test
Mevalonic aciduria Test
Mevalonicaciduria Test
Mismatch Repair by Immunohistochemistry
Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation
Mitochondrial Disorders Test
Mitochondrial Neurogastrointestinal Encephalopathy Disease Test
Mitochondrial Respiratory Chain Complex I Deficiency Test
Mitochondrial Respiratory Chain Complex II Deficiency Test
Mitochondrial Respiratory Chain Complex III Deficiency Test
Mitochondrial Respiratory Chain Complex IV Deficiency Test
MLH1-Related Lynch Syndrome Test
Molybdenum Cofactor Deficiency Test
Morquio Syndrome Panel
Morquio Syndrome, Type B
MPI-CDG (CDG-Ib) Test
MSH2-Related Lynch Syndrome Test
MSH6-Related Lynch Syndrome Test
MTHFR Deficiency Test
MTHFR Thermolabile Variant Test
Mucolipidosis I Test
Mucolipidosis II or III in white blood cell
Mucolipidosis II/III Test
Mucopolysaccaridosis Type I (Hurler Syndrome): Alpha-L-Iduronidase Enzyme Activity, Leukocytes
Mucopolysaccaridosis Type IVB (Morquio IVB Syndrome): Beta-Galactosidase Enzyme Activity, Leukocytes
Mucopolysaccaridosis Type VI (Maroteaux Lamy Syndrome): Arylsulfatase B Enzyme Activity, Leukocytes
Mucopolysaccaridosis Type VII (Sly Syndrome): Beta-Glucuronidase Enzyme Activity, Leukocytes
Mucopolysaccharidosis Enzyme Panel
Mucopolysaccharidosis Type I Enzyme
Mucopolysaccharidosis Type I Test
Mucopolysaccharidosis Type II Test
Mucopolysaccharidosis Type IIIA Test
Mucopolysaccharidosis Type IIIB Test
Mucopolysaccharidosis Type IIIC Test
Mucopolysaccharidosis Type IIID Test
Mucopolysaccharidosis Type IVA Test
Mucopolysaccharidosis Type IVB Test
Mucopolysaccharidosis Type VI Test
Mucopolysaccharidosis Type VII Test
Mucopolysaccharidosis: Glycosaminoglycans (GAGs), Quantitative and Qualitative, Urine
Multiple Acyl-CoA Dehydrogenase Deficiency Test
Multiple Sulfatase Deficiency Panel
Multiple Sulfatase Deficiency Test
Muscle Coenzyme Q10 Determination
Myoadenylate Deaminase Deficiency Test
 

N 

Neonatal and Infantile Seizures Panel
NEONATAL-ONE
Neopterin (CSF)
Neopterin/Tetrahydrobiopterin (CSF)
Neurological Sphingolipidosis Panel
Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)
Niemann-Pick Disease Test
Niemann-Pick Disease Type C Test
Niemann-Pick Type A/B enzyme
NSDHL-Related Disorders Test
 

O 

Oilgosaccharidosis Panel
Oligosaccharide Chromatography Test
Oligosaccharidosis and Congenital Disorders of Glycosylation: High resolution Oligosaccharide (Free Glycan) Profile, Urine
Organic Acid Profile, Quantitative and Qualitative, Urine
Organic Acid Screen - Urine
Organic acids (urine)
Ornithine Aminotransferase Deficiency Test
Ornithine Transcarbamylase Deficiency Test
Ornithine Transcarbamylase-L
Orotic Acid Test
Orotic Acid, Quantitative, Urine
Orotic Acid/Orotidine Determination - Urine
Orotic Aciduria Test
 

P 

Peroxisomal Bifunctional Enzyme Deficiency Test
Phenylalanine Determination - Blood Spot
Phenylalanine Determination - Plasma
Phenylalanine Hydroxylase Deficiency Test
Phenylalanine Loading Assay (Plasma)
Phenylbutyrate Metabolite Analysis
Phenylketonuria (Monitoring): Phenylalanine and Tyrosine, Quantitative, Dried Blood Spot
Phosphatidylinositol Bisphosphate Phosphatase-A
Phosphatidylinositol Bisphosphate Phosphatase-F
Phosphoglycerate Kinase 1 Deficiency Test
Phosphorylase Kinase Deficiency Test
Plasma Analyte for Pyridoxine-Dependent Seizure
Plasma Carnitine/Acylcarnitine Profile
Platelet Glycoprotein Expression (PGE)
PMM2-CDG (CDG-Ia) Test
PMS2-Related Lynch Syndrome Test
Polyols - Urine
Pompe Disease
Pompe Disease Enzyme
Pompe Disease: Acid Alpha-Glucosidase Enzyme Activity, Dried Blood Spot
Pompe Disease: Acid Alpha-Glucosidase Enzyme Activity, Leukocytes
Porphyria Cutanea Tarda Test
PPT1-Related Neuronal Ceroid-Lipofuscinosis Test
Primary Hyperoxaluria Metabolites
Propionic Acidemia Test
Pseudoneonatal Adrenoleukodystrophy Test
Purine and Pyrimidine Panel
Purine Nucleoside Phosphorylase Deficiency Test
Purine Nucleoside Phosphorylase-A
Purine Nucleoside Phosphorylase-F
Purine Nucleoside Phosphorylase-R
Purine Nucleoside Phosphorylase-W
Purine Panel - Urine
Pyridoxal 5'-phosphate (CSF)
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Test
Pyridoxine-Dependent Epilepsy Test
Pyrimidine 5'-nucleotidase Deficiency Test
Pyrimidine Panel - Urine
Pyruvate (Blood)
Pyruvate (CSF)
Pyruvate Carboxylase Deficiency Test
Pyruvate Dehydrogenase Complex Deficiency Test
Pyruvate Dehydrogenase E1-Alpha Deficiency Test
Pyruvate Dehydrogenase E1-Beta Deficiency Test
Pyruvate Kinase Deficiency Test
Pyruvic Acid, Quantitative, Blood
Pyruvic Acid, Quantitative, Cerebral Spinal Fluid
 

Q 

Quantitation of Guanidinoacetate
 

R 

Refsum Disease Test
Research Institute of the McGill University Health Center, Braverman Labroatory
Respiratory Chain Enzymes-Muscle
Respiratory Chain Enzymes-SFC
Rhabdoid Tumor Predisposition Syndrome 1 Test
Rhabdomyolysis: Tier 1 Panel
Rhabdomyolysis: Tier 2 Panel
Rhizomelic Chondrodysplasia Punctata Type 1 Test
Rhizomelic Chondrodysplasia Punctata Type 2 Test
Rhizomelic Chondrodysplasia Punctata Type 3 Test
Ribose 5-Phosphate Isomerase Deficiency Test
 

S 

Sandhoff Disease Test
Sanfilippo Syndrome Panel
Sarcosinemia Test
Schindler Disease Test
Schindler/Kanzaki Disease Test
SCID Newborn Screening Panel
Short Chain Acyl-CoA Dehydrogenase Deficiency
Short Chain Acyl-CoA Dehydrogenase Deficiency Test
Sialic Acid (CSF)
Sialic Acid Quantitative Testing
Sialic Acid Test, Total and Free
Sialidase
sialidosis Test
Sialuria Test
Sitosterolemia Test
Sjogren-Larsson Syndrome Test
SLC6A8-Related Creatine Transporter Deficiency Test
Smith-Lemli-Opitz Syndrome Test
Smith-Lemli-Opitz: Sterol Profile, Plasma
Sperm DNA Damage
Sphingomyelinase-F
Sphingomyelinase-W
STAT: Acylcarnitine Profile, Plasma
STAT: Amino Acid Profile, Plasma
STAT: Organic Acid Profile, Quantitative and Qualitative, Urine
Steroid 5-Alpha-Reductase Deficiency Test
Steroid Sulfatase
Steroid Sulfatase-F
Steroid Sulfatase-W
Sterols, Plasma
Succinic Semialdehyde Dehydrogenase Deficiency Test
Succinyladenosine (CSF)
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria Test
Sulfocysteine
Sulfocysteine Determination - Urine
Sulfocysteinuria Test
Systemic Primary Carnitine Deficiency Test
 

T 

Tay Sach Disease Test
Tay Sachs disease enzyme analysis
Tay-Sachs Carrier Testing (Serum)
Tay-Sachs Carrier Testing (WBC)
Tay-sachs disease Test
Tay-Sachs Disease: Hex A Activity, WBC
Thymidine Determination - Plasma
Thymidine Phosphorylase Enzyme Analysis (Blood)
Thymidine/Deoxyuridine analytes (Plasma)
TPP1-Related Neuronal Ceroid-Lipofuscinosis Test
Transaldolase Deficiency Test
Transferrin Isoelectric Focusing Test
Trifunctional Protein Deficiency Test
Trimethylaminuria Test
Triosephosphate Isomerase Deficiency Test
Tyrosine Hydroxylase Deficiency Test
Tyrosinemia Type I Test
Tyrosinemia Type II Test
Tyrosinemia Type III Test
 

U 

Urinary Acylglycines
Urine Mucopolysaccharides (GAG) Screening Test
Urine Mucopolysaccharidosis Analysis Test
Urine Oligosaccharides Screening Testing
Urine Succinylacetone
Urine Sulfated Monosaccharide Assay
 

V 

Variegate Porphyria Test
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Test
Vitamin D (25-hydroxyvitamin D2 and D3)
VWD Diagnostic Evaluation
 

W 

Werner Syndrome Test
White Blood Cell Cystine
 

X 

X-Linked Leigh Syndrome Test
X-Linked Protoporphyria Test
 

Z 

Zellweger Syndrome Spectrum Test