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.
Neurology
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).
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.
Angelman Syndrome Methylation-Specific MLPA
Test code: DANG
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect methylation abnormalities and copy number variants associated with Angelman syndrome.
Angelman Syndrome: (15q11q13) FISH Analysis
Test code: CASS
TAT: 28 days
A cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.
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.
Charcot-Marie-Tooth Disease Type 1A: PMP22 Deletion/Duplication MLPA
Test code: DCMD
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Charcot-Marie-Tooth disease type 1A.
Craniosynostosis NGS Panel
Test code: DCRA
TAT: 35 days
Prenatal Samples Accepted
This panel of 8 genes is intended for patients with a diagnosis or clinical suspicion of craniosynostosis.
Duchenne/Becker Muscular Dystrophy: DMD Deletion/Duplication MLPA
Test code: DDMD
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify copy number variants in the gene associated with Duchenne or Becker muscular dystrophy.
Epilepsy/Seizure NGS Panel
Test code: DESP
TAT: 8 weeks
A panel of 165 genes intended for patients with a diagnosis of epilepsy or seizures.
EpiSign Complete
Test code: DEPI
TAT: 28 days
EpiSign Complete is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for over 90 recognized genetic conditions.
EpiSign Variant
Test code: DEPT
TAT: 28 days
EpiSign Variant is a targeted review of methylation data intended to resolve variants of uncertain clinical signficance in genes with a known epigenetic signature.
Fucosidosis: Alpha-fucosidase Enzyme Analysis
Test code: BFUCL, BFUCD, BFUCF
TAT: 14 days
This biochemical test measures alpha-fucosidase enzyme activity.
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.
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.
Mitochondrial DNA Variant Panel
Test code: DMVP
TAT: 5 weeks
A panel of 96 mitochondrial DNA variants intended for patients with a diagnosis or clinical suspicion of a mitochondrial disorder.
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Variant
Test code: DMTP
TAT: 28 days
mtDNA Targeted Analysis with heteroplasmy is a next generation sequencing test used to detect a previously identified mtDNA varient.
mtDNA Targeted Analysis: Known Familial Variant
Test code: DMTS
TAT: 14 days
mtDNA Targeted Analysis is a Sanger sequencing test used to detect a previously identified mtDNA variant.
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.
Optical Genome Mapping – FSHD1
Test code: COGF
TAT: 28 days
A cytogenetic test used to identify pathogenic contractions of the D4Z4 repeat array in FSHD1, with possible reflex testing for FSHD2.
Pelizaeus-Merzbacher Disease, Spastic Paraplegia: PLP1 Deletion/Duplication MLPA
Test code: DPLM
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Pelizaeus-Merzbacher disease, spastic paraplegia.