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.