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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

R421

Pulmonary Fibrosis, Familial

Test Group

Respiratory

Specialties

Clinical Genetics Respiratory Medicine Haematology Hepatology

Test code

R421.1

Test name

N/A

Target genes

Panel to be added to PanelApp (25 gene panel)

Test scope

n/a

Test method/ technology

Medium panel

Optimal Family Structure

n/a

Eligibility Criteria

Interstitial Lung Disease (ILD) and ONE of the following:
1. ILD, no identifiable cause or association, and age <50 years. 2. Family history of ILD regardless of identifiable cause or association 3. For suspected telomerase complex variants, testing to be considered in the absence of 1. and 2. above if one or more of the following are present in addition to ILD: • unexplained haematological abnormalities including macrocytosis, anaemia, thrombocytopenia, leukopenia and/or isolated lymphopenia; • unexplained haematological abnormalities including macrocytosis, anaemia, thrombocytopenia, leukopenia and/or isolated lymphopenia; premature greying, • or unexplained liver function abnormalities. • Consideration of lung transplantation

Test code

R421.2

Test name

N/A

Target genes

Panel to be added to PanelApp (25 gene panel)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Interstitial Lung Disease (ILD) and ONE of the following:
1. ILD, no identifiable cause or association, and age <50 years. 2. Family history of ILD regardless of identifiable cause or association 3. For suspected telomerase complex variants, testing to be considered in the absence of 1. and 2. above if one or more of the following are present in addition to ILD: • unexplained haematological abnormalities including macrocytosis, anaemia, thrombocytopenia, leukopenia and/or isolated lymphopenia; • unexplained haematological abnormalities including macrocytosis, anaemia, thrombocytopenia, leukopenia and/or isolated lymphopenia; premature greying, • or unexplained liver function abnormalities. • Consideration of lung transplantation

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Contact with queries

geneticslab@rbht.nhs.uk

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

Cardiology and Respiratory Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements
Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container.

Sample Rejection
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 Sample Storage and Volume Required:
Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details).

Storage, sample packing and transportation:
Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier.

Patient/Clinician Instructions:
N/A

Factors affecting performance of test/interpretation of results:
Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.