Greenwood Genetic Center

Acylcarnitine Profile

Quantitation of acylcarnitines

Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing

ABCD1 sequencing is a molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.

Alpha-mannosidosis Serum Oligosaccharide Analysis

Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis

This biochemical analysis of alpha-mannosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of alpha-mannosidosis. In addition, it can be used to clarify molecular findings in the MAN2B1 gene and to monitor patients undergoing treatment.

Amino Acid Analysis (CSF, Plasma, Urine)

Amino acids can be quantitatively measures in plasma, urine, and CSF for detection of abnormalities associated with inborn errors of metabolism.

Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis

This biochemical analysis of Aspartyglucosaminidase enzyme activity can be used for patients with a clinical suspicion of Aspartylglucosaminuria or to clarify molecular findings in the AGA gene.

Beta-mannosidosis: Beta-mannosidase Enzyme Analysis

This biochemical analysis of Beta-mannosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Beta-mannosidosis.

Biotinidase Deficiency: Biotinidase Enzyme Analysis

This biochemical analysis of biotinidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Biotinidase Deficiency. In addition, it can be used to clarify molecular findings in the BTD gene, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.

C5-DC (Glutarylcarnitine) Analysis

Measurement of urine glutarylcarnitine (C5-DC) is available to detect glutaric acidemia, particularly type I (GA1). Patients are often identified via newborn screening. However, some patients are low excretors and can exhibit normal or mildly elevated biochemical analytes making a definitive diagnosis of GA1 difficult without molecular analysis.

Carnitine Analysis, Total and Free

Measurement of free and total carnitine levels are important for determining the validity of acylcarnitine profiles as well as following patients under carnitine supplementation.

Chitotriosidase Enzyme Analysis

Meaurement of chitotriosidase can be used to monitor disease progression for individuals with Gaucher disease including those receiving enzyme replacement therapy.

Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)

Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine)

Creatine biosynthesis disorders can be separated based on urine testing for guanidinoacetate (GAA) and creatine. Patients with AGAT (L-arginine:glycine amidinotransferase) deficiency show a low urinary GAA level while patients with GAMT (guanidinoacetate methyltransferase) deficiency have an elevated GAA level.

Creatine Transporter Deficiency: Creatine Analysis (Urine)

Elevated creatine/creatinine ratios in urine are suggestive of creatine transporter deficiency.

Fabry Disease: Alpha-galactosidase Enzyme Analysis

This biochemical analysis of Alpha-galactosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Fabry Disease. In addition, it can be used to clarify molecular findings, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.

Fucosidosis: Alpha-fucosidase Enzyme Analysis

This biochemical analysis of Alpha-fucosidase enzyme activity is intended for patients with a clinical suspicion of Fucosidosis or to clarify molecular findings in the FUCA1 gene.

Galactosemia: Galactose-1-Phosphate Analysis

The measurement of galactose-1-phosphate is performed to confirm a new diagnosis of galactosemia and to periodically monitor the effectiveness of treatment in patients known to have the disease.

Gaucher Disease: Beta-glucosidase Enzyme Analysis

This biochemical analysis of Beta-glucosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Gaucher Disease. In addition, it can be used to clarify molecular findings, to follow up abnormal newborn screening results, and to monitor patients undergoing treatment.

Glutaric Acidemia Type I: GCDH Sequencing

GCDH sequencing is a molecular test used to identify variants in the gene associated with Glutaric Acidemia, Type I.

Homocysteine Analysis

Elevations in plasma homocysteine levels may be associated with homocystinuria, cobalamin disorders, and vitamin B12 or folic acid deficiencies. Measurement of plasma homocysteine can be used to monitor patients undergoing treatment for Certain cobalamin disorders (CblC, CblD and CblE), which are characterized by hypotonia, failure to thrive, developmental delay and megaloblastic anemia and result in elevated homocysteine levels.

Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis

This biochemical test is a quantitative measurement of iduronate-2-sulfatase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. Demonstration of deficient iduronate-2-sulfatase enzyme activity is considered the gold standard to confirm a diagnosis of Mucopolysaccharidosis II (MPS II), Hunter Syndrome. In addition, it can be used to clarify molecular findings in the IDS gene and to follow up abnormal newborn screening results.

Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis

This biochemical analysis of alpha-iduronidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis I (MPS I)/Hurler Syndrome.

Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)

This test includes quantitative total glycosaminoglycans as well as dermatan and heparan sulfate (uDS, uHS) component GAGs and can be used as a monitoring tool for patients with Hurler or Hunter syndrome (MPS I/II).

Hydrops Enzyme Panel

This panel of four 4 enzymes includes alpha-neuraminidase-sialidase (sialidosis), beta-galactosidase (GM1 gangliosidosis, galactosialidosis), beta-glucosidase (Gaucher disease), and
beta-glucuronidase (Sly syndrome, MPS VII). This biochemical analysis is intended for patients with clinical evidence of Hydrops of unknown etiology, and each of these enzymes can be ordered individually.

Krabbe Disease: Galactocerebrosidase Enzyme Analysis

This biochemical analysis of Galactocerebrosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Krabbe disease.

Krabbe Disease: Psychosine Monitoring

Psychosine, also known as galactosylsphingosine, is a substrate of the galactocerebrosidase (GALC) enzyme that is deficient in Krabbe disease. Thus, psychosine is used as a biomarker for patients with Krabbe disease, both for diagnosis and for treatment monitoring. Psychosine can also be elevated in atypical Krabbe disease due to Saposin A deficiency due do variants in the PSAP gene.

Lysosomal Storage Disease Enzyme Panel

This panel of 13 enzymes is intended for patients with a diagnosis or clinical suspicion of Lysosomal Storage Disease This biochemical analysis is intended for patients with clinical evidence of lysosomal storage of unknown etiology, and each of these enzymes can be ordered individually.

Lysosomal Storage Disease Enzyme Panel (DBS)

This panel of 12 enzymes is intended for patients with a diagnosis or clinical suspicion of Lysosomal Storage Disease.

Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis

This biochemical analysis of Arylsulfatase B enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis VI (MPSVI)/Maroteaux-Lamy syndrome.

Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)

This test includes quantitative total glycosaminoglycans and dermatan sulfate (uDS) component GAGs and can be used to monitor patients with with Maroteaux Lamy syndrome (MPS VI).

Metachromatic Leukodystrophy (MLD): Arylsulfatase A Enzyme Analysis

This biochemical analysis of Arylsulfatase A enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Metachromatic Leukodystrophy (MLD).

Morquio Syndrome (MPS IV) Enzyme Panel

This panel of 2 enzymes is intended for patients with a diagnosis or clinical suspicion of Mucopolysaccharidosis IV (MPSIV)/Morquio syndrome.

Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)

Urine GAG analysis is useful to monitor patients with an MPS disorder.

Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis

This biochemical analysis of N-acetyl-galactosamine-6-sulfatase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IVA (MPSIVA)/Morquio A syndrome. In addition, it can be used to clarify molecular findings in the GALNS gene and to monitor patients undergoing treatment.

Morquio Syndrome B (MPS IVB), GM1 Gangliosidosis: Beta-galactosidase Enzyme Analysis

This biochemical analysis of Beta-galactosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IVB (MPS IVB)/Morquio B syndrome or GM1 Gangliosidosis. In addition, it can be used to clarify molecular findings in the GLB1 gene and to monitor patients undergoing treatment.

Mucolipidosis II/III Enzyme Panel (DBS)

This test measures the enzyme activity of three hydrolases to make a diagnosis of mucolipidosis.

Mucolipidosis II/III Enzyme Panel (Plasma)

This test measures the enzyme activity of three hydrolases to make a diagnosis of mucolipidosis.

Mucopolysaccharidosis (MPS) Enzyme Panel

This enzyme panel includes quantitative measurement of the activity for 10 MPS enzymes.

Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)

This panel of 7 enzymes can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis (MPS). This biochemical analysis is intended for patients with clinical evidence of mucopolysaccharidosis, and each of these enzymes can be ordered individually.

Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)

This test includes quantitative measurement of total glycosaminoglycans (GAGs) as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate. Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with a suspected MPS diagnosis, measurement of glycosaminoglycans in urine serves as a useful screening test.

Multiple Sulfatase Deficiency Enzyme Panel

This panel of enzymes is intended for patients with a diagnosis or clinical suspicion of Multiple Sulfatase Deficiency.

Neurological Enzyme Panel

This panel of enzymes is intended for patients with neurological symptoms suggestive of a lysosomal storage disorder and includes quantification of the activity of 9 enzymes.

Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis

This biochemical analysis of Palmitoyl-protein thioesterase 1 enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Neuronal Ceroid Lipofuscinosis Type 1 (CLN1). In addition, it can be used to clarify molecular findings in the PPT1 gene and to monitor patients undergoing treatment.

Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis

This biochemical analysis of Tripeptidyl peptidase 1 enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). In addition, it can be used to clarify molecular findings in the TPP1 gene and to monitor patients undergoing treatment.

Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis

This biochemical analysis of Acid sphingomyelinase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Niemann-Pick A/B disease.

Oligosaccharide Urine Analysis

The urine oligosaccharide analysis is a semi-quantitative test useful in screening for alpha mannosidosis, beta mannosidosis, fucosidosis, sialidosis, beta galactosidase deficiency, galactosialidosis, Sandhoff disease, and aspartylglucosaminuria.

Oligosaccharidoses Enzyme Panel

This panel of enzymes is intended for patients with a diagnosis or clinical suspicion of an oligosaccharidosis condition.

Organic Acid Analysis

Urine organic acid analysis is general biochemical screen used to detect a variety of inborn errors of metabolism.

Orotic Acid Analysis

This biochemical analysis of orotic acid determination is useful in delineating the cause of hyperammonemia. Excessive amounts of orotic acid are usually found in OTC (ornithine transcarbamylase) deficiency, citrullinemia, and often in argininosuccinic aciduria.

Phenylketonuria: PAH Sequencing

PAH sequencing is a molecular test used to identify variants in the gene associated with Phenylketonuria.

Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis

This biochemical analysis of Alpha-glucosidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Glycogen Storage Disease Type II, Pompe disease. In addition, it can be used to clarify molecular findings in the GAA gene, and to follow up abnormal newborn screening results.

Pompe Disease, Glycogen Storage Disease Type II: Glucose Tetrasaccharide (Glc4) Urine Monitoring

The biochemical analysis of glucose tetrasaccharide (Glc4) in urine can be used to evaluate the clearance of glycogen from cells and monitor the effectiveness of enzyme replacement therapy in patients affected by Pompe disease.

Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing

SLC22A5 sequencing is a molecular test used to identify variants in the gene associated with Primary Carnitine Deficiency, systemic.

Sanfilippo Syndrome (MPS III) Enzyme Panel

This panel of 4 enzymes is intended for patients with a clinical suspicion of Mucopolysaccharidosis III (MPS III), Sanfilippo Syndrome. This biochemical analysis is intended for patients with clinical evidence of Sanfilippo syndrome, and each of these enzymes can be ordered individually.

Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS)

This testing includes quantitative total glycosaminoglycans and quantitative analysis of heparan sulfate (uHS). It can be used as a monitoring tool for patients with Sanfilippo syndrome (MPS III).

Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis

This biochemical analysis of Heparan-N-sulfatase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIIA (MPS IIIA)/Sanfilippo A syndrome. In addition, it can be used to clarify molecular findings in the SGSH gene and to monitor patients undergoing treatment.

Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis

This biochemical analysis of N-acetyl-alpha-D-glucosaminidase enzyme activity can be used as a 1st tier test for patients with a clinical suspicion of Mucopolysaccharidosis IIIB (MPS IIIB)/Sanfilippo B syndrome. In addition, it can be used to clarify molecular findings in the NAGLU gene and to monitor patients undergoing treatment.

Biochemical Testing