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.