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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

R464

Recurrent miscarriage, products of conception not available – parental karyotype

Test Group

Core

Test code

R464.1

Test name

Recurrent miscarriage – karyotype

Target genes

Test scope

copy number variant detection to genomewide resolution and structural variants

Test method/ technology

Karyotype

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
. Recurrent miscarriage (defined as three or more miscarriages):
• where testing of the pregnancy loss has not been possible due to an unsuitable/failed sample e.g. no fetal material/MCC/fixed in formalin, and no previous losses have been successfully tested and reported. Note that although parental karyotype analysis is available following a failed test, this is of limited utility and the most informative pathway is to test any subsequent pregnancy loss.
Recurrent miscarriage (five or more pregnancy losses):
• Where none of the previous losses have been successfully tested and reported e.g. biochemical pregnancies, no products available for testing
Where in Pathway
At presentation

Commissioning group

n/a

Overlapping idications

n/a

Address for samples/request forms

Contact with queries

Supporting documents

n/a

Education resources

n/a

Turn around times

n/a

Request form download

n/a

Consent record

n/a

Sample requirements

n/a