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.
Skeletal
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.
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).
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.
Overgrowth/Macrocephaly NGS Panel
Test code: DOMP
TAT: 8 weeks
A panel of 16 genes intended for patients with a diagnosis of an overgrowth syndrome or macrocephaly.
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.
Saethre-Chotzen Syndrome: TWIST1 Deletion/Duplication MLPA
Test code: DTWM
TAT: 14 days
A molecular test used to identify copy number variants in the gene associated with Saethre-Chotzen syndrome.
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).
Sotos Syndrome: NSD1 Deletion/Duplication MLPA
Test code: DNSM
TAT: 14 days
A molecular test used to detect copy number variants in the gene associated with Sotos syndrome.