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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

R148

Hypogonadotropic hypogonadism

Test Group

Endocrinology

Test code

R148.1

Test name

N/A

Target genes

Hypogonadotropic hypogonadism idiopathic (650)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Hypogonadotropic hypogonadism (absent or incomplete puberty with low LH/FSH in the context of low testosterone/oestradiol), with or without anosmia, with no detectable cause

Test code

R148.2

Test name

N/A

Target genes

Hypogonadotropic hypogonadism idiopathic (650)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Hypogonadotropic hypogonadism (absent or incomplete puberty with low LH/FSH in the context of low testosterone/oestradiol), with or without anosmia, with no detectable cause

Commissioning group

Specialised

Overlapping idications

n/a

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/

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