3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing
Test code: DMC2
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the genes associated with 3-Methylcrotonylglycinuria.
Metabolic
Acid Sphingomyelinase Deficiency (ASMD): SMPD1 Sequencing
Test code: DSMP
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with acid sphingomyelinase deficiency (Niemann-Pick A/B disease).
Acylcarnitine Profile
Test code: BACY
TAT: 10 days
This biochemical test measures acylcarnitines for patients with a clinical suspicion of several fatty acid oxidation disorders and organic acidurias.
Alpha-mannosidosis Serum Oligosaccharide Analysis
Test code: BSAM
TAT: 21 days
This biochemical test measures oligosaccharides in patients with alpha-mannosidosis.
Alpha-mannosidosis: Alpha-mannosidase Enzyme Analysis
Test code: BAMNL, BAMND, BAMNF
TAT: 14 days
This biochemical test measures alpha-mannosidase enzyme activity.
Alpha-mannosidosis: MAN2B1 Sequencing
Test code: DMAN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with alpha-mannosidosis.
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: AGA Sequencing
Test code: DAGA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with aspartylglucosaminuria.
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.
Biotinidase Deficiency: BTD Sequencing
Test code: DBTD
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with biotinidase deficiency.
C5-DC (Glutarylcarnitine) Analysis
Test code: BUC5
TAT: 10 days
This biochemical test measures urine glutarylcarnitine (C5-DC) in patients with glutaric acidemia.
Carnitine Analysis, Total and Free
Test code: BTFC
TAT: 10 days
This biochemical test measures free and total carnitine levels.
Carnitine Palmitoyltransferase IA Deficiency: CPT1A Sequencing
Test code: DCPT
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with carnitine palmitoyltransferase IA deficiency.
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.
Creatine Transporter Deficiency: Creatine Analysis (Urine)
Test code: BUCN
TAT: 14 days
This biochemical test measures creatine/creatnine ratios in urine.
Fabry Disease: Alpha-galactosidase Enzyme Analysis
Test code: BAGLL, BAGLP, BAGLD, BAGLF
TAT: 14 days
This biochemical test measures alpha-galactosidase enzyme activity.
Fabry Disease: GLA Sequencing
Test code: DGLA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Fabry disease.
Fucosidosis: Alpha-fucosidase Enzyme Analysis
Test code: BFUCL, BFUCD, BFUCF
TAT: 14 days
This biochemical test measures alpha-fucosidase 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.
Galactosemia: GALT Sequencing
Test code: DGAL
TAT: 10 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with galactosemia.
Gaucher Disease: Beta-glucosidase Enzyme Analysis
Test code: BBGUL, BBGUD, BBGUF
TAT: 14 days
This biochemical test measures beta-glucosidase enzyme activity.
Gaucher Disease: GBA Sequencing
Test code: DGBA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Gaucher disease.
Glutaric Acidemia Type I: GCDH Sequencing
Test code: DGCD
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with glutaric acidemia type I.
GM1 Gangliosidosis, Morquio Syndrome B (MPS IVB): Beta-galactosidase Enzyme Analysis
Test code: BBGLL, BBGLF, BBGLD
TAT: 14 days
This biochemical test measures beta-galactosidase enzyme activity.
GM1 Gangliosidosis/Morquio Syndrome B (MPS IVB): GLB1 Sequencing
Test code: DGLB
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with GM1 gangliosidosis/morquio syndrome B (MPS IVB).
Homocysteine Analysis
Test code: BHOM
TAT: 10 days
This biochemical test measures plasma homocysteine in patients with homocystinuria.
Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA
Test code: DIDM
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Hunter syndrome (MPS II).
Hunter Syndrome (MPS II): IDS Sequencing
Test code: DIDS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Hunter syndrome (MPS II).
Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis
Test code: BIDSP, BIDSL, BIDSD, BIDSF
TAT: 14 days
This biochemical test measures iduronate-2-sulfatase enzyme activity.
Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis
Test code: BIDUL, BIDUP, BIDUD, BIDUF
TAT: 14 days
This biochemical test measures alpha-iduronidase enzyme activity.
Hurler Syndrome (MPS I): IDUA Sequencing
Test code: DIDU
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Hurler syndrome (MPS I).
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: Galactocerebrosidase Enzyme Analysis
Test code: BKRBD
TAT: 14 days
This biochemical test quantitatively measures galactocerebrosidase enzyme activity.
Krabbe Disease: GALC Sequencing
Test code: DGAC
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Krabbe disease.
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.
Lysosomal Storage Disease Enzyme Panel
Test code: BLSB
TAT: 21 days
This biochemical panel measures the activity of 13 enzymes associated with lysosomal storage diseases.
Lysosomal Storage Disease Enzyme Panel (DBS)
Test code: BLED
TAT: 21 days
This biochemical panel measures the activity of 12 enzymes associated with lysosomal storage diseases.
Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing
Test code: DARB
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Maroteaux-Lamy syndrome (MPS VI).
Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis
Test code: BASBL, BASBD, BASBF
TAT: 14 days
This biochemical test measures arylsulfatase B enzyme activity.
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.
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing
Test code: DACM
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with medium-chain acyl-CoA Dehydrogenase (MCAD) deficiency.
Metachromatic Leukodystrophy (MLD): Arylsulfatase A Enzyme Analysis
Test code: BASAD, BASAL, BASAF
TAT: 14 days
This biochemical test measures arylsulfatase A enzyme activity.
Metachromatic Leukodystrophy: ARSA Sequencing
Test code: DARA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with metachromatic leukodystrophy.
Morquio Syndrome (MPS IV) Enzyme Panel
Test code: BMQP, BMQD
TAT: 14 days
This biochemcial panel that measures the activity of two enzymes associated with morquio syndrome.
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).
Morquio Syndrome A (MPS IVA): GALNS Sequencing
Test code: DGAN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with morquio syndrome A (MPS IVA) .
Morquio Syndrome A (MPS IVA): N-Acetylgalactosamine-6-Sulfatase Enzyme Analysis
Test code: BMQAL, BMQAF, BMQAD
TAT: 14 days
This biochemical test measures N-acetylgalactosamine-6-sulfatase enzyme activity.
Mucolipidosis II/III Enzyme Panel (DBS)
Test code: BDML
TAT: 10 days
This biochemical panel measures the activity enzymes to detect the elevations of hydrolases associated with mucolipidosis II/III.
Mucolipidosis II/III Enzyme Panel (Plasma)
Test code: BICL
TAT: 10 days
This biochemical panel measures the activity enzymes to detect the elevations of hydrolases associated with mucolipidosis II/III.
Mucopolysaccharidosis (MPS) Enzyme Panel
Test code: BMPP
TAT: 21 days
This biochemical panel measures the activity of ten enzymes associated with mucopolysaccharidosis.
Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)
Test code: BMPD
TAT: 21 days
This biochemical panel measures the activity of seven enzymes associated with mucopolysaccharidosis.
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).
Multiple Sulfatase Deficiency Enzyme Panel
Test code: BMDP, BMDD
TAT: 14 days
This biochemical panel measures the activity of three enzymes assocaited with multiple sulfatase deficiency.
Neurological Enzyme Panel
Test code: BNRP
TAT: 14 days
This biochemical panel measures the activity of 9 enzymes and is intended for patients with neurological symptoms associated with lysosomal diseases.
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.
Niemann-Pick Disease A/B: Acid Sphingomyelinase Enzyme Analysis
Test code: BASMD
TAT: 14 days
This biochemical test measures acid sphingomyelinase enzyme activity.
Non-Immune Hydrops NGS Panel
Test code: DNHP
TAT: 8 weeks
Prenatal Samples Accepted
A panel of 108 genes intended for patients with a diagnosis or clinical suspicion of hydrops.
Oligosaccharide Urine Analysis
Test code: BOLG
TAT: 21 days
This biochemical test screens for lysosomal storage diseases associated with oligosaccharidosis.
Oligosaccharidoses Enzyme Panel
Test code: BOSP, BOSD
TAT: 14 days
This biochemical panel measures the activity of enzymes associated with oligosaccharidosis.
Organic Acid Analysis
Test code: BUOA
TAT: 10 days
This biochemical test measures organic acid to detect a variety of inborn errors of metabolism.
Orotic Acid Analysis
Test code: BORO
TAT: 10 days
This biochemical test measures orotic acid to clarify the cause of hyperammonemia.
Phenylketonuria: PAH Sequencing
Test code: DPAH
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with phenylketonuria.
Pompe Disease, Glycogen Storage Disease II: Glucose Tetrasaccharide (Glc4) Urine Monitoring
Test code: BGL4
TAT: 10 days
A biochemical test that measures urine glucose tetrasaccharide (Glc4).
Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis
Test code: BAGUL, BAGUD, BAGUF
TAT: 14 days
This biochemical test measures alpha-glucosidase enzyme activity.
Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA
Test code: DMGA
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Pompe disease, or glycogen storage disease type II.
Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing
Test code: DGAA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with pompe disease, or glycogen storage disease type II.
Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing
Test code: DS22
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with sytemic primary carnitine deficiency.
Rhabdomyolysis & Metabolic Myopathies NGS Panel
Test code: DRHA
TAT: 8 weeks
A panel of 47 genes intended for patients with a diagnosis or clinical suspicion of a condition associated with rhabdomyolysis or a metabolic myopathy.
Sanfilippo Syndrome (MPS III) Enzyme Panel
Test code: BSFP
TAT: 14 days
This biochemical panel measures the actitivity of 4 enzymes associated with sanfilippo syndrome (mucopolysaccharidosis III).
Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS)
Test code: BMM3
TAT: 10 days
A biochemical test that quantatively measures total glycosaminoglycans (GAGs) and heparan sulfate (HS).
Sanfilippo Syndrome A (MPS IIIA): Heparan-N-Sulfatase Enzyme Analysis
Test code: BSFAL, BSFAF
TAT: 14 days
This biochemical test measures heparan-N-sulfatase enzyme activity.
Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing
Test code: DSGS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome A (MPS IIIA).
Sanfilippo Syndrome B (MPS IIIB): N-Acetyl-Alpha-Glucosaminidase Enzyme Analysis
Test code: BSFBP, BSFBF, BSFBD
TAT: 14 days
This biochemical test measures N-acetyl-alpha-glucosaminidase enzyme activity.
Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing
Test code: DNAG
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome B (MPS IIIB).
Sanfilippo Syndrome C (MPS IIIC): Acetyl CoA Glucosamine N-Acetyltransferase Enzyme Analysis
Test code: BSFCL, BSFCF
TAT: 14 days
This biochemical test measures acetyl-CoA-glucosamine N-acetyltransferase enzyme activity.
Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing
Test code: DHGS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome C (MPS IIIC).
Sanfilippo Syndrome D (MPS IIID): GNS Sequencing
Test code: DGNS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome D (MPS IIID).
Sanfilippo Syndrome D (MPS IIID): N-Acetylglucosamine-6-Sulfatase Enzyme Analysis
Test code: BSFDL
TAT: 14 days
This biochemical test measures N-acetylglucosamine-6-sulfatase enzyme activity.
Schindler/Kanzaki Disease: Alpha-N-Acetylgalactosaminidase Enzyme Analysis
Test code: BSCHP, BSCHL, BSCHD
TAT: 14 days
This biochemical test measures acetylgalactosaminidase enzyme activity.
Sialic Acid Analysis, Total and Free
Test code: BSIA
TAT: 21 days
This biochemical test measures free sialic acid in urine as a screening tool for sialic aid disorders .
Sialidosis: NEU1 Sequencing
Test code: DNEU
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with sialidosis .
Sialidosis: Sialidase (Alpha-Neuraminidase) Enzyme Analysis
Test code: BSLDF
TAT: 28 days
This biochemical test measures sialidase enzyme activity.
Sly Syndrome (MPS VII): Beta-glucuronidase Enzyme Analysis
Test code: BBGCL, BBGCD, BBGCF
TAT: 14 days
This biochemical test measures beta-glucuronidase enzyme activity.
Sly Syndrome (MPS VII): GUSB Sequencing
Test code: DGUS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sly Syndrome (MPS VII).
Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)
Test code: BMM7
TAT: 10 days
This biochemical test quantitatively measures total glycosaminoglycans, dermatan sulfate (uDS), and chondroitin sulfate (CS).
Storage Disease Panel
Test code: BMPS, BOLG , BSIA
TAT: 21 days
This urine panel provides a comprehensive screening for lysosomal storage diseases.
Tay-Sachs Disease: HEXA Sequencing
Test code: DHXA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Tay-Sachs disease.
Tay-Sachs/Sandhoff Disease: Beta-hexosaminidase Enzyme Analysis
Test code: BTAYP
TAT: 14 days
This biochemical test measures beta-hexosaminidase enzyme activity.
Total Glycosaminoglycans (GAGs) Analysis
Test code: BGAG
TAT: 10 days
This biochemical test measures total glycosaminoglycan (GAG) concentrations to detect elevated levels.
Tryptophan Analysis
Test code: BTRP
TAT: 10 days
This biochemical test measures tryptophan quantitatively.
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency: ACADVL Sequencing
Test code: DVLC
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.