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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

R462

Childhood interstitial lung disease

Test Group

Respiratory

Specialties

Paediatrics Respiratory Medicine

Test code

R462.1

Test name

Childhood interstitial lung disease

Target genes

SFTPA1, TERT , PARN, STAT1, FLNA, SFTPA2, TERC, TINF2, STAT5B, FOXF1, SFTPB, NAF1, COPA, TMEM173, ITGA3, SFTPC, MARS1, PSMB4, SLC34A2, CSF2RA, ABCA3, RTEL1, PSMB8, BMPR2, CSF2RB, NKX2-1 (TTF-1), OAS1, PSMB9, TBX4, RAB5B (amber), GATA2, SLC7A7, LRBA, FARSA, FARSB

Test scope

SNVs, CNVs

Test method/ technology

Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Hypoxia not sufficiently explained by an alternative diagnosis
AND
Computed tomography (CT), reviewed by specialist chest radiologist and respiratory paediatrician suggestive of childhood interstitial lung disease. Unless patient too unwell for chest CT, for example on extra-corporeal life support.

Corrected gestational age 37 weeks or older
Where in Pathway
At presentation

Commissioning group

n/a

Overlapping idications

n/a

Address for samples/request forms

Contact with queries

Supporting documents

n/a

Education resources

n/a

Turn around times

n/a

Request form download

n/a

Consent record

n/a

Sample requirements

n/a