Clinical Indication ID & Name
Neutropaenia consistent with ELANE mutations
Test Group
Haematology
Specialties
Test code
R313.1
Test name
N/A
Target genes
ELANE
Test scope
n/a
Test method/ technology
Single gene sequencing <10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Isolated neutropaenia where ELANE mutations are plausible and have not been excluded, AND
2. Family history should NOT indicate autosomal recessive disease, AND
3. Clinical presentation is non-syndromic
Commissioning group
Specialised
Overlapping idications
• R91 Cytopenia – NOT Fanconi anaemia or R258 Cytopenia – Fanconi breakage testing indicated tests should be used where features are atypical of ELANE mutations • R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
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
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form