Familial SHOX gene related disorders
SHOX testing for familial SHOX related disorders (Germline DNA).
Spinal Muscular Atrophy (SMA)
SMN1/SMN2 copy number testing for patients with spinal muscular atrophy.
Fragile X Syndrome (FRAX)
FMR1 gene testing for Fragile X Syndrome (FRAX) (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
Huntington disease (HD)
HTT gene testing for Huntington disease (HD) (Germline DNA)
Hereditary Endocrine Cancer (HEC) (MEN2)
Testing for hereditary endocrine cancer. This EQA has options for for MEN2 or gene panel testing and panel testing.