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

R340

Amelogenesis imperfecta

Test Group

Musculoskeletal

Specialties

Clinical Genetics Surgical Dentistry

Test code

R340.1

Test name

N/A

Target genes

Amelogenesis imperfecta (269)

Test scope

n/a

Test method/ technology

WES or Medium panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Significant developmental abnormalities of enamel quality and/or quantity affecting all or nearly all teeth of both dentitions (primary and secondary), AND
2. Environmental factors excluded

NOTE: Enamel abnormalities affecting unerupted permanent teeth can be detected on dental radiographs meaning that information about both dentitions is available well before eruption of the first permanent tooth

Test code

R340.2

Test name

N/A

Target genes

Amelogenesis imperfecta (269)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Significant developmental abnormalities of enamel quality and/or quantity affecting all or nearly all teeth of both dentitions (primary and secondary), AND
2. Environmental factors excluded

NOTE: Enamel abnormalities affecting unerupted permanent teeth can be detected on dental radiographs meaning that information about both dentitions is available well before eruption of the first permanent tooth

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