Endocrinology Genomic testing

The complete list of the Clinical Indications for endocrinology-associated rare disorders can be found in the National Genomics Test Directory.  Testing is provided by three of the seven Genomic Laboratory Hubs across England. WMRGL provides local, regional and national testing for the clinical indications listed below.

All patients’ samples should be sent to WMRGL; DNA will be extracted and testing will either take place in WMRGL or DNA will forwarded to our allocated provider according to NHS England’s instructions.

WMRGL Endocrinology services

• R402 premature ovarian insufficiency
• R314 Ambiguous genitalia presenting neonatally
• R106 Alstrom syndrome
• R146 Disorders of sex development
• R147.1 Growth failure in early childhood (gene panel testing) 
• R147.2 Growth faliure in early childhood (Russell-Silver syndrome)
• R49 Beckwith-Wiedemann syndrome
• R50 Isolated hemihypertrophy or macroglossia
• R150.1 Adrenal hypoplasia congenita
• R180 Congenital adrenal hyperplasia
• R388 Linkage for Congenital adrenal hyperplasia (see above sheet R180)
• R181 Congenital adrenal hyperplasia carrier testing (See above sheet R180)
• R159.1 Pituitary hormone deficiency
• R417 Multi Locus Imprinting Disorder
• R223 Inherited phaeochromocytoma
• R218 Multiple endocrine neoplasia type 2

_{Updated 26/04/2022}