Alpha-mannosidosis Serum Oligosaccharide Analysis
Test code: BSAM
TAT: 21 days
This biochemical test measures oligosaccharides in patients with alpha-mannosidosis.
Monitoring
Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
Test code: BAMNL, BAMND, BAMNF
TAT: 14 days
This biochemical test measures alpha-mannosidase enzyme activity.
Amino Acid Analysis, CSF
Test code: BCAA
TAT: 5 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Amino Acid Analysis, Plasma
Test code: BPAA
TAT: 5 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Amino Acid Analysis, Urine
Test code: BUAA
TAT: 7 days
This biochemical test measures amino acids to help detect abnormalities associated with inborn errors of metabolism.
Aspartylglucosaminuria: Aspartyglucosaminidase Enzyme Analysis
Test code: BASGL, BASGP, BASGD
TAT: 14 days
This biochemical test measures aspartyglucosaminidase enzyme activity.
Beta-mannosidosis: Beta-mannosidase Enzyme Analysis
Test code: BBMNL, BBMND, BBMNF
TAT: 14 days
This biochemical test measures beta-mannosidase enzyme activity.
Biotinidase Deficiency: Biotinidase Enzyme Analysis
Test code: BBTD
TAT: 10 days
This biochemical test measures biotinidase enzyme activity.
Carnitine Analysis, Total and Free
Test code: BTFC
TAT: 10 days
This biochemical test measures free and total carnitine levels.
Chitotriosidase Enzyme Analysis
Test code: BCHI
TAT: 10 days
This biochemical test that measures chitotriosidase enzyme activity.
Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)
Test code: BCGP
TAT: 14 days
This biochemical test measures creatine and guanidinoacetate in plasma to screen for creatine biosynthesis disorders.
Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine)
Test code: BCGU
TAT: 14 days
This biochemical test measures creatine and guanidinoacetate in urine to screen for creatine biosynthesis disorders.
Fabry Disease: Alpha-galactosidase Enzyme Analysis
Test code: BAGLL, BAGLP, BAGLD, BAGLF
TAT: 14 days
This biochemical test measures alpha-galactosidase enzyme activity.
Galactosemia: Galactose-1-Phosphate Analysis
Test code: BG1P
TAT: 10 days
This biochemical test measures galactose-1-phosphate to diagnose and monitor galactosemia.
Gaucher Disease: Beta-glucosidase Enzyme Analysis
Test code: BBGUL, BBGUD, BBGUF
TAT: 14 days
This biochemical test measures beta-glucosidase enzyme activity.
Homocysteine Analysis
Test code: BHOM
TAT: 10 days
This biochemical test measures plasma homocysteine in patients with homocystinuria.
Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)
Test code: BMM1
TAT: 10 days
This biochemical test quantitatively measures total glycosaminoglycans, dermatan sulfate (uDS), and heparan sulfate (uHS).
Hydrops Enzyme Panel
Test code: BHYD
TAT: 28 days
This biochemical panel measures the activity of four enzymes associated with non-immune hydrops resulting from inborn errors of metabolism.
Krabbe Disease: Psychosine Monitoring
Test code: BPSYD
TAT: 10 days
A biochemical test that measures psychosine levels in patients with a diagnosis or suspicion of Krabbe disease.
Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)
Test code: BMM6
TAT: 10 days
This biochemical test measures total glycosaminoglycans and dermatan sulfate (uDS) component GAGs quantitiatively.
Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)
Test code: BMM4
TAT: 10 days
A biochemical test that measures total glycosaminoglycans, keratan sulfate (uKS), and chondroitin sulfate (uCS).
Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)
Test code: BMPS
TAT: 14 days
This biochemical test quantitatively measures total glycosaminoglycans (GAGs), dermatan sulfate (DS), chondroitin sulfatate (CS), keratan sulfate (KS), and heparan sulfate (HS).
Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis
Test code: BPPTL
TAT: 14 days
This biochemical test measures palmitoyl-protein thiosterase 1 enzyme activity.
Neuronal Ceroid Lipofuscinosis 2 (CLN2): Tripeptidyl Peptidase 1 Enzyme Analysis
Test code: BTPPD
TAT: 14 days
This biochemical test measures tripeptidyl peptidase 1 enzyme activity.