Clinical Indication ID & Name

R468

Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis

Test Group

Core

Specialties

Clinical Genetics Genomics Laboratory Endocrinology Paediatrics

Test code

R468.1

Test name

Possible sex chromosome aneuploidy or structural rearrangement

Target genes

Test scope

Chromosome imbalance and/or structural variant

Test method/ technology

TCA

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Clinical suspicion of a sex chromosome abnormality e.g. Turner syndrome, sex chromosome mosaicism, sex chromosome structural abnormality [TCA].

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

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.