Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Possible structural chromosomal rearrangement – karyotype

Clinical Indication ID & Name


Possible structural chromosomal rearrangement - karyotype

Test Group


Test code


Test name


Target genes

As determined by indication

Test scope


Test method/ technology


Optimal Family Structure


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


Overlapping idications


Address for samples/request forms

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

Supporting documents


Education resources


Service updates


Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form