Alpha-mannosidosis Serum Oligosaccharide Analysis
Test code: BSAM
TAT: 21 days
This biochemical test measures oligosaccharides in patients with alpha-mannosidosis.
Genetics & Dysmorphology
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.
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.
Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing
Test code: DCDN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Beckwith-Wiedemann syndrome.
Beckwith-Wiedemann Syndrome Methylation-Specific MLPA
Test code: DBWM
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect methylation abnormalities or copy number variants associated with BWS.
Beta-mannosidosis: Beta-mannosidase Enzyme Analysis
Test code: BBMNL, BBMND, BBMNF
TAT: 14 days
This biochemical test measures beta-mannosidase enzyme activity.
Chromosome 14 UPD Analysis
Test code: DC14
TAT: 21 days
Prenatal Samples Accepted
A comparative analysis between the proband and parental samples for markers on chromosome 14.
Chromosome 15 UPD Analysis
Test code: DC15
TAT: 21 days
Prenatal Samples Accepted
A comparative analysis between the proband and parental samples for markers on chromosome 15.
Chromosome 7 UPD Analysis
Test code: DC07
TAT: 21 days
Prenatal Samples Accepted
A comparative analysis between the proband and parental samples for markers on chromosome 7.
Connexin 26: GJB2 Sequencing
Test code: DGJB
TAT: 14 days
A molecular test used to identify varitants in the gene associated with Connexin 26-related hearing loss.
Connexin 26: GJB2 Targeted Analysis
Test code: DGJT
TAT: 14 days
Prenatal Samples Accepted
GJB2 targeted analysis is a molecular test used to identify known variants in the gene associated with Connexin 26-related hearing loss.
Cytogenomic Microarray
Test code: CCMA
TAT: 26 days
Prenatal Samples Accepted
A cytogenetic tests that provides genome-wide detection of copy number gains and losses.
DiGeorge/VCF: (22q11.2) FISH Analysis
Test code: C22Q
TAT: 28 days
A cytogenetic test used to identify deletions or duplications in chromosome region 22q11.2.
Disorders of Somatic Mosaicism NGS Panel
Test code: DDSM
TAT: 8 weeks
An NGS panel of 56 genes intended for patients with a diagnosis or clinical suspicion of a disorder of somatic mosaicism.
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.
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.
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.
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.