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.
Molecular
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.
Aortic Dysfunction/Dilation & Related Disorders NGS Panel
Test code: DAOR
TAT: 8 weeks
A panel of 20 genes intended for patients with a diagnosis or clinical suspicion of aortic dysfunction, dilation, and related disorders.
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 Polyalanine Repeat
Test code: DPHO
TAT: 7 days
A molecular test used to identify pathogenic variants in the gene associated with central hypoventilation syndrome.
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.
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.
Cholestasis NGS Panel
Test code: DCHO
TAT: 35 days
A panel of 74 genes intended for patients with a diagnosis or clinical suspicion of cholestasis.
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.
Comprehensive Cardiac NGS Panel
Test code: DCAR
TAT: 8 weeks
A panel of 125 genes intended for patients with a diagnosis or clinical suspicion of an inherited cardiac disorder.
Comprehensive Pulmonary NGS Panel
Test code: DCPP
TAT: 8 weeks
A panel of 147 genes intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders.
Connective Tissue Disorders NGS Panel
Test code: DCTP
TAT: 8 weeks
A panel of 36 genes intended for patients with a diagnosis or clinical suspicion of a connective tissue disorder.
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.
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.