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.
Prenatal
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.
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.
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.
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.
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.
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.
Central Hypoventilation Syndrome: PHOX2B Sequencing
Test code: DPHS
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with central hypoventilation syndrome.
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.
Chromosome Analysis, Routine (Amniotic Fluid)
Test code: CARO
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS))
Test code: CCVR
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine (POC)
Test code: CCRP
TAT: 6 weeks
A cytogenetic test used to detect imbalances of genetic material that may explain the cause of a pregnancy loss.
Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid)
Test code: CARM
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities at a larger count to assess for mosaicism.
Chromosome Analysis, Routine; Rule Out Mosaic (POC)
Test code: CPLM
TAT: 6 weeks
A cytogenetic test used to detect imbalances of genetic material that may explain the cause of a pregnancy loss.
Chromosome Analysis, Routine; Short Study (Amniotic Fluid)
Test code: CASH
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS))
Test code: CCSS
TAT: 14 days
A cytogenetic test used to detect chromosomal abnormalities.
Chromosome Analysis, Routine; Short Study (POC)
Test code: CPLS
TAT: 6 weeks
A cytogenetic test used to detect chromosomal abnormalities.
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.
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.
Cystic Fibrosis: CFTR Targeted Analysis
Test code: DCTM
TAT: 28 days
Prenatal Samples Accepted
CFTR targeted analysis is a molecular test used to detect a known variant associated with cystic fibrosis.
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.
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.
Focused NGS – Panel (16-60 genes)
Test code: DFE4
TAT: 8 weeks
Prenatal Samples Accepted
A custom panel of 16-60 genes analyzed on the genome backbone.
Focused NGS – Panel (2-5 genes)
Test code: DFE2
TAT: 8 weeks
Prenatal Samples Accepted
A custom panel of 2-5 genes analyzed by using the genome backbone.
Focused NGS – Panel (6-15 genes)
Test code: DFE3
TAT: 8 weeks
Prenatal Samples Accepted
A custom panel of 6-15 genes analyzed by using the genome backbone.
Focused NGS – Single Gene
Test code: DFES
TAT: 35 days
Prenatal Samples Accepted
A custom single gene analysis on the genome backbone.
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.
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: 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 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).
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).
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.
Maroteaux-Lamy Syndrome (MPS VI): ARSB Sequencing
Test code: DARB
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Maroteaux-Lamy syndrome (MPS VI).
Maternal Cell Contamination
Test code: DMCC
TAT: 14 days
This molecular test is a comparative analysis between maternal and fetal DNA.
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing
Test code: DACM
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with medium-chain acyl-CoA Dehydrogenase (MCAD) deficiency.
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.
Morquio Syndrome A (MPS IVA): GALNS Sequencing
Test code: DGAN
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with morquio syndrome A (MPS IVA) .
Myotonic Dystrophy: DMPK Trinucleotide Repeat Analysis
Test code: DMYO
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify expanded CTG repeats in the gene associated with myotonic dystrophy.
Non-Immune Hydrops NGS Panel
Test code: DNHP
TAT: 8 weeks
Prenatal Samples Accepted
A panel of 108 genes intended for patients with a diagnosis or clinical suspicion of hydrops.
Phenylketonuria: PAH Sequencing
Test code: DPAH
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with phenylketonuria.
Pompe Disease, Glycogen Storage Disease Type II: GAA Sequencing
Test code: DGAA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with pompe disease, or glycogen storage disease type II.
Pregnancy Loss Microarray
Test code: CMPL
TAT: 26 days
A cytogenetic test used to detect imbalances of genetic material that may explain the cause of a pregnancy loss.
Prenatal Exome Sequencing – Duo Analysis
Test code: DPE2
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing (PES) is a phenotype-driven analysis available for patients with abnormal ultrasound findings.
Prenatal Exome Sequencing – Trio Analysis
Test code: DPE3
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing (PES) is a phenotype-driven analysis available for patients with abnormal ultrasound findings.
Prenatal Exome Sequencing-XL – Duo Analysis
Test code: DPX2
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing-XL (PES-XL) is available for patients with abnormal ultrasound findings.
Prenatal Exome Sequencing-XL – Trio Analysis
Test code: DPX3
TAT: 21 days
Prenatal Samples Accepted
Prenatal exome sequencing-XL (PES-XL) is available for patients with abnormal ultrasound findings.
Prenatal Microarray
Test code: CMPD
TAT: 14 days
A cytogenetic test that detects copy number gains and losses.
Primary Carnitine Deficiency, Systemic: SLC22A5 Sequencing
Test code: DS22
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with sytemic primary carnitine deficiency.
PTEN-Related Disorders: PTEN Targeted Analysis
Test code: DPTT
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify known 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 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.
Russell-Silver Syndrome Methylation-Specific MLPA
Test code: DRSM
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to detect copy number variants and methylation abnormalities associated with Russell-Silver syndrome.
Sanfilippo Syndrome A (MPS IIIA): SGSH Sequencing
Test code: DSGS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome A (MPS IIIA).
Sanfilippo Syndrome B (MPS IIIB): NAGLU Sequencing
Test code: DNAG
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome B (MPS IIIB).
Sanfilippo Syndrome C (MPS IIIC): HGSNAT Sequencing
Test code: DHGS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome C (MPS IIIC).
Sanfilippo Syndrome D (MPS IIID): GNS Sequencing
Test code: DGNS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sanfilippo syndrome D (MPS IIID).
Sialidosis: NEU1 Sequencing
Test code: DNEU
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with sialidosis .
Skeletal Dysplasia NGS Panel
Test code: DSDP
TAT: 35 days
Prenatal Samples Accepted
A panel of 11 genes intended for patients with a diagnosis or clinical suspicion of a skeletal dysplasia.
Sly Syndrome (MPS VII): GUSB Sequencing
Test code: DGUS
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Sly Syndrome (MPS VII).
Spinal Muscular Atrophy: SMN1 Targeted Analysis
Test code: DSMK
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify known variants in the gene associated with spinal muscular atrophy (SMA).
Spinal Muscular Atrophy: SMN1/SMN2 Deletion/Duplication MLPA
Test code: DSMN
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify copy number variants in the gene associated with spinal muscular atrophy (SMA).
STRC-Related Disorders: STRC Sequencing
Test code: DSTR
TAT: 21 days
Prenatal Samples Accepted
STRC sequencing is a molecular test used to identify variants in the gene associated with STRC-related autosomal recessive hearing loss.
Targeted Analysis: Known Familial Variant
Test code: DTKF
TAT: 14 days
Prenatal Samples Accepted
Targeted Analysis: Known Mutation is used to detect a previously identified sequence variant.
Tay-Sachs Disease: HEXA Sequencing
Test code: DHXA
TAT: 21 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with Tay-Sachs disease.
Trisomy FISH Screen (13,18,21,X,Y) (Amniotic Fluid)
Test code: CTAF
TAT: 4 days
A cytogenetic test used to identify aneuploidies in chromosomes 13, 18, 21, X, and Y.
Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS))
Test code: CTCV
TAT: 4 days
A cytogenetic test used to identify aneuploidies in chromosomes 13, 18, 21, X, and Y.
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency: ACADVL Sequencing
Test code: DVLC
TAT: 14 days
Prenatal Samples Accepted
A molecular test used to identify variants in the gene associated with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.