Clinical Indication ID & Name

R306

NIPD for Apert syndrome - mutation testing

Test Group

NIPD

Specialties

Clinical Genetics Fetal Medicine

Test code

R306.1

Test name

N/A

Target genes

FGFR2

Test scope

n/a

Test method/ technology

NIPD

Optimal Family Structure

n/a

Eligibility Criteria

Pregnancy in which NIPD for Apert syndrome is required
Either:
1. Abnormal ultrasound findings suggestive of Apert syndrome with acrocephaly, proptosis AND
symmetrical syndactyly, OR
2. At risk pregnancy due to paternal Apert syndrome OR a previous pregnancy with confirmed Apert syndrome

Commissioning group

Specialised

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/

Request form download

Rare Disease Order Form Record of Discussion Form

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

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.