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.
Custom & Targeted Testing
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.
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.
Mitochondrial DNA Variant Panel
Test code: DMVP
TAT: 5 weeks
A panel of 96 mitochondrial DNA variants intended for patients with a diagnosis or clinical suspicion of a mitochondrial disorder.
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Variant
Test code: DMTP
TAT: 28 days
mtDNA Targeted Analysis with heteroplasmy is a next generation sequencing test used to detect a previously identified mtDNA varient.
mtDNA Targeted Analysis: Known Familial Variant
Test code: DMTS
TAT: 14 days
mtDNA Targeted Analysis is a Sanger sequencing test used to detect a previously identified mtDNA variant.
Optical Genome Mapping – Targeted
Test code: COGT
TAT: 28 days
A cytogenetic test that detects structural variants at a higher resolution, and can be ordered to analyze specific gene(s) or region.
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.
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.
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).
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.
Targeted Deletion/Duplication Analysis (qPCR)
Test code: CACC
TAT: 34 days
A cytogenetic test used to detect copy number variants (CNVs) identified in the proband via microarray.
Targeted Infertility Microarray
Test code: CMCI
TAT: 26 days
A cytogenetic test that analyzes certain regions of the Y chromosome associated with male infertility.