Endocrine Genomic testing

Endocrine Genomic Testing

The complete list of the Clinical Indications for endocrine-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.

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.

Please check the Test Directory eligibility criteria before your request any of these tests.

Referral forms can be found here and for turnaround times please check here .

If further information is needed please contact: bwc.endocrinegenomics@nhs.net

**WMRGL Endocrine services**
Test code	Clinical Indication	Service information / link to GMS PanelApp
R106	Alström syndrome	ALMS1 sequencing
R146.2	Disorders of sex development	https://nhsgms-panelapp.genomicsengland.co.uk/panels/9/v4.0 Gene Panel including genes associated with both 46,XX and 46,XY DSDs. Copy number changes affecting the 11p13 WAGR syndrome region or the Xp21.2 NR0B1 region will not be detected by this gene panel method. Please request a microarray for this testing (R146.1). CYP21A2 cannot be analysed using this method due to the existence of a highly homologous pseudogene. Please request R180 Congenital adrenal hyperplasia testing if CYP21A2 analysis is required.
R147.1	Growth failure in early childhood (gene panel testing)	https://nhsgms-panelapp.genomicsengland.co.uk/panels/473/v3.0 Indications for genetic testing of individuals for growth failure include: A height/length more than 3 standard deviations (SDS) below the mean at the age of at least two years OR The 3 following features: Small for gestational age: ≤ -2SDS for gestational age Postnatal growth failure: Height at 24 + 1 months ≤ -2SDS or height ≤ -2SDS below mid-parental target height Low BMI: BMI ≤ -2SDS at 24 months Please note this analysis includes BRCA2 and PALB2 which are also associated with inherited predisposition to breast and ovarian cancer.
R147.2	Growth failure in early childhood (Russell-Silver syndrome)	Link to R147.2 RSS information sheet
R49	Beckwith Wiedemann syndrome	Link to R49 R50 BWS information sheet
R50	Isolated hemihypertrophy or macroglossia
R150.1	Congenital adrenal hypoplasia (adrenal hypoplasia congenital)	https://nhsgms-panelapp.genomicsengland.co.uk/panels/145/v3.0
R159.1	Pituitary hormone deficiency	https://nhsgms-panelapp.genomicsengland.co.uk/panels/483/v3.0 Indications for genetic testing of causes of pituitary hormone deficiency include: Deficiency of two or more pituitary hormones Isolated growth hormone deficiency Craniofacial midline defects including septo-optic dysplasia (SOD), pituitary stalk interruption syndrome (PSIS) or other structural pituitary gland abnormalities
R417	Multi-locus imprinting disorder (MLID)	Tier 1 testing: (R417.1) Methylation-sensitive MLPA (MS-MLPA) analysis of imprinted regions on chromosomes 6, 7, 11, 14, 15, 19 and 20. Tier 2 testing (R417.2) Small gene panel testing requires proband and maternal DNA to analyse as a duo. Tier 2 testing is available for patients with confirmed MLID. https://nhsgms-panelapp.genomicsengland.co.uk/panels/1109/v1.2
R180	Congenital adrenal hyperplasia	CYP21A2 Sanger sequencing and MLPA Testing of genes associated with rare forms of congenital adrenal hyperplasia is available as part of the R146.2 disorders of sex development panel.
R181	Congenital adrenal hyperplasia carrier testing	Targeted testing of individuals with a known family history (R181.1 & R181.2), full gene screen of partners of known affected/carriers (R246.1)
R388	Linkage for Congenital adrenal hyperplasia	Analysis of 5 microsatellite markers flanking the CYP21A2 gene.
R218	Multiple endocrine neoplasia type 2	RET sequencing
R223	Inherited phaeochromocytoma	https://nhsgms-panelapp.genomicsengland.co.uk/panels/649/v2.0
R314	Ambiguous genitalia presenting neonatally	Core genomic testing information
R402	Premature Ovarian failure	Core genomic testing information