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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

R297

Possible structural chromosomal rearrangement - karyotype

Test Group

Core

Test code

R297.1

Test name

N/A

Target genes

As determined by indication

Test scope

n/a

Test method/ technology

Karyotype

Optimal Family Structure

n/a

Eligibility Criteria

Possible structural chromosomal rearrangement requiring karyotype including one of the following:
1. Possible Robertsonian translocation, reciprocal translocation, ring chromosome or other microscopically visible structural rearrangement indicated by findings from microarray, WGS or other laboratory technique.
2. Recurrent miscarriage (defined as three or more consecutive miscarriages) in whom testing of products of conception has not been possible.

Note: this should not be performed routinely nor retrospectively where products of conception have not been provided, but may be used in exceptional circumstances, detailed below;
• Where an attempt to provide pregnancy loss samples has been unsuccessful;
o unsuitable sample (eg. no fetal material/MCC)
o failed sample (eg. fixed in formalin)
• Where the intention has been to collect the next pregnancy loss but this has not been possible due to the nature of the loss
• Five or more biochemical pregnancy losses.

3. A family history suggestive of familial balanced translocation.
4. Unexplained infertility who are going to undergo infertility treatment.
5. Patient with ambiguous genitalia potentially caused by a sex chromosome rearrangement not
detectable via other tests.
6. Egg/sperm donors prior to acceptance.

Commissioning group

Core

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