Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R402

Premature ovarian insufficiency

Test Group

Core

Specialties

Clinical Genetics Endocrinology Gynaecology

Test code

R402.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Karyotype or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Four consecutive months of unexplained amenorrhoea (primary or secondary), AND
2. Elevated serum FSH of >30IU/L on two separate occasions at least 6 weeks apart, AND
3. Age of onset is <30 years, AND 4. Non-genetic causes have been excluded including presence of thyroid and adrenal auto-antibodies

Test code

R402.2

Test name

N/A

Target genes

FMR1 STR

Test scope

n/a

Test method/ technology

STR testing

Optimal Family Structure

n/a

Eligibility Criteria

1. Four consecutive months of unexplained amenorrhoea (primary or secondary), AND
2. Elevated serum FSH of >30IU/L on two separate occasions at least 6 weeks apart, AND
3. Age of onset is <30 years, AND 4. Non-genetic causes have been excluded including presence of thyroid and adrenal auto-antibodies

Commissioning group

Core

Overlapping idications

• R53 Fragile X syndrome should be used for individuals with suspected fragile X syndrome • R54 Hereditary ataxia with onset in adulthood test should be used in preference in individuals with adult onset ataxia given the broad range of possible causes

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old