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.
Newborn Screening
Adrenoleukodystrophy, X-Linked: ABCD1 Sequencing
Test code: DABC
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with X-linked Adrenoleukodystrophy.
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 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.
Cystic Fibrosis: CFTR Sequencing
Test code: DCFS
TAT: 28 days
CFTR sequencing is a molecular test used to identify variants in the gene associated with cystic fibrosis.
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.
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): 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).
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).
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.