Clinical Indication ID & Name
Pulmonary Fibrosis, Familial
Test Group
Respiratory
Specialties
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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
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.