Huntington disease (HD)
HTT gene testing for Huntington disease (HD) (Germline DNA)
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.
Congenital Adrenal Hyperplasia (CAH)
CYP21A2 testing for Congenital Adrenal Hyperplasia (CAH) (germline DNA testing)
Cardiac Disorders
Panel testing for Cardiac disorders (targeted NGS/ virtual panel /clinical exome / WES / WGS). This EQA has options for Arrythmia panel, Hypertrophic Cardiomyopathy panel, and all Cardiac Disorders.