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).
Intellectual Disability
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.
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.
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.
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.
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.
Fragile X Syndrome: FMR1 Methylation Analysis
Test code: DFMA
TAT: 21 days
A molecular test used to provide methylation status when previous testing FMR1 testing identified an expansion but did not include methylation status.
Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis
Test code: DFMR
TAT: 7-10 days
Prenatal Samples Accepted
FMR1 trinucleotide repeat analysis is a molecular test used to identify polymorphic (CGG) expansion repeat size in the gene associated fragile X syndrome.
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.
Prader-Willi Syndrome Methylation-Specific MLPA
Test code: DPWS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect copy number variants and methylation abnormalities associated with Prader-Willi syndrome.
Prader-Willi Syndrome: (15q11q13) FISH Analysis
Test code: CPWS
TAT: 28 days
A cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.
PTEN-Related Disorders: PTEN Deletion/Duplication MLPA
Test code: DPTM
TAT: 14 days
A molecular test used to detect copy number variants in the gene associated with PTEN-related disorders.
RASopathy NGS Panel
Test code: DRAO
TAT: 8 weeks
Prenatal Samples Accepted
A panel of 23 genes intended for patients with a diagnosis or clinical suspicion of a RASopathy syndrome.
Rett Syndrome: MECP2 Deletion/Duplication MLPA
Test code: DMEM
TAT: 14 days
A molecular test used to detect copy number variants in the gene associated with Rett syndrome.
Rett Syndrome: MECP2 Sequencing
Test code: DMES
TAT: 21 days
A molecular test used to identify variants in the gene associated with Rett syndrome.
Rett Syndrome: MECP2 Targeted Analysis
Test code: DMEC
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify known variants in the gene associated with Rett syndrome.