Hereditary Hearing Loss
Testing for Hereditary Hearing Loss. This EQA has options for panel testing and targeted DFNB1 (GJB2 and GJB6) testing
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)
Inherited Retinal Disorders (IRD)
Panel testing for isolated and syndromic Inherited Retinal Disorders (IRD) (Germline DNA). Includes one case involving a gene related to an approved/in trial therapy, and option for RPGR ORF15 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.