Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Pulmonary Fibrosis, Familial

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 mutations, 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 mutations, 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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form