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.
Cardiovascular
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.
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.
DiGeorge/VCF: (22q11.2) FISH Analysis
Test code: C22Q
TAT: 28 days
A cytogenetic test used to identify deletions or duplications in chromosome region 22q11.2.
Dilated & Arrhythmogenic Cardiomyopathy NGS Panel
Test code: DDCA
TAT: 8 weeks
A panel of 65 genes intended for patients with a diagnosis or clinical suspicion of an inherited cardiac disorder.
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.
Familial Hypercholesterolemia NGS Panel
Test code: DFHP
TAT: 35 days
A panel of 4 genes intended for patients with a diagnosis or clinical suspicion of familial hypercholesterolemia.
Familial Hypercholesterolemia: LDLR Deletion/Duplication MLPA
Test code: DLDL
TAT: 14 days
A molecular test used to identify copy number variants in the LDLR gene associated with familial hypercholesterolemia.
Maturity-Onset Diabetes of the Young (MODY) NGS Panel
Test code: DMOD
TAT: 8 weeks
This panel of 16 nuclear genes and 1 mitochondrial gene is intended for patients with a diagnosis or clinical suspicion of a condition associated with maturity-onset diabetes of the young.
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 II: Glucose Tetrasaccharide (Glc4) Urine Monitoring
Test code: BGL4
TAT: 10 days
A biochemical test that measures urine glucose tetrasaccharide (Glc4).
Pompe Disease, Glycogen Storage Disease Type II: Alpha-glucosidase Enzyme Analysis
Test code: BAGUL, BAGUD, BAGUF
TAT: 14 days
This biochemical test measures alpha-glucosidase enzyme activity.
Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA
Test code: DMGA
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Pompe disease, or glycogen storage disease type II.
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.
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.
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.
Vascular Malformation NGS Panel
Test code: DVMP
TAT: 8 weeks
A panel of 21 genes intended for patients with a diagnosis or clinical suspicion of a vascular disorders.