Osteogenesis imperfecta (OI)
COL1A1 and COL1A2 testing for patients with osteogenesis imperfecta and familial cases.
Postnatal Constitutional CNV Detection
Postnatal Constitutional CNV Detection using array based, or NGS approaches (Germline DNA).
Phenylketonuria (PKU)
PAH testing for Phenylketonuria (PKU) (Germline DNA)
Fragile X Syndrome (FRAX)
FMR1 gene testing for Fragile X Syndrome (FRAX) (Germline DNA).
Friedreich Ataxia (FRDA)
FXN gene testing for Friedreich’s Ataxia (FRDA) (Germline DNA)
Hereditary Breast and Ovarian Cancer (HBOC) (Germline)
BRCA1/BRCA2 or panel testing for hereditary breast and ovarian cancer (HBOC) (Germline DNA), this EQA has options for targeted or panel testing