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 you request any of these tests.

Referral form can be found here and turnaround times can be found 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

Differences of sex development

https://nhsgms-panelapp.genomicsengland.co.uk/panels/9/v4.5

Gene Panel including genes associated with both 46,XX and 46,XY DSDs.

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.

R453

Monogenic short stature (gene panel testing)

https://nhsgms-panelapp.genomicsengland.co.uk/panels/1471/v1.0

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.
R452 Silver Russell syndrome and Temple syndrome

R452_SRS_Information Sheet

R49

Beckwith Wiedemann syndrome

R49 R50 BWS Information Sheet
R50 Isolated hemihypertrophy or macroglossia R49 R50 BWS Information Sheet

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.

R223

Inherited phaeochromocytoma

https://nhsgms-panelapp.genomicsengland.co.uk/panels/649/v3.0

R314

Ambiguous genitalia presenting neonatally

Core genomic testing information

R402

Premature Ovarian failure

Core genomic testing information
 

Updated 24/09/2024