Hereditary Renal / Kidney Cancer (VHL)
Testing for Hereditary Renal / Kidney Cancer. This EQA has options for targeted VHL testing or gene panel testing of hereditary renal cancer disorders (Germline DNA)
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
Hereditary Amyloidosis
TTR gene testing for Hereditary Amyloidosis (germline DNA testing) and optional testing for other Hereditary Amyloidosis genes
Y-Chromosome Microdeletion Testing (AZF)
Y-Chromosome Microdeletion testing for patients with male infertility.
Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)
Methylation and copy number analysis for BWS and SRS testing.