Systemic Autoinflammatory Diseases
Testing for related genes (ADA2, NOD2, MVK or MEFV) for Systemic Autoinflammatory Diseases (Germline DNA)
Spinocerebellar Ataxias (SCA)
Testing for Spinocerebellar Ataxias (SCA) (Germline DNA).
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.
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)