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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

R465

Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis

Test Group

Core

Specialties

Clinical Genetics Genomics Laboratory Fetal Medicine Endocrinology Paediatrics

Test code

R465.1

Test name

Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis

Target genes

Test scope

copy number variant detection to genomewide resolution and structural variants or TCA

Test method/ technology

Karyotype/TCA

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Cascade testing for known chromosomal rearrangement or family follow-up for possible balanced chromosomal rearrangement. [TCA/Karyotype as appropriate].

NB: Application of either karyotype or TCA will be directed by professional judgement, best practice recommendation, clinical context and/or the type of cytogenetic rearrangement(s) detected. Due to the nature of cytogenetic analysis, reportable cytogenetic incidental findings may be detected during TCA.
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