Core Genomic Testing
The National Genomics Test Directory for Rare Disease includes more than 500 genetic tests organised in Core and Specialists Service groups/referral pathways, to facilitate the identification of the most appropriate test for each clinical indication.
The rare and inherited diseases eligibility criteria document supplements the National Genomic Test Directory by setting out which patients should be considered for testing under that indication, and the requesting specialties is a list of the clinical specialties who would be expected to request the test. Previous updates to the National Genomics Test Directory are available.
The most common core clinical indications provided in WMGL are listed below.
Developmental Disorders
- R26 Likely common aneuploidy
- R27 Paediatric disorders (WGS)
- R28 Congenital malformation and dysmorphism syndromes (microarray only) — Use where the patient has features strongly suggestive of a specific chromosomal disorder
- R29 Intellectual disability (WGS)
- R377 Intellectual disability (microarray only)
- R47 Angelman syndrome
- R48 Prader-Willi Syndrome
- R53 Fragile X
- R69 Hypotonic Infant (WGS)
- R312 Parental sequencing for lethal autosomal recessive disorders
Other Core Genomic Testing
- R402 Premature ovarian insufficiency
- R314 Ambiguous genitalia presenting neonatally
- R411 Y chromosome microdeletion
- R24 Achondroplasia
- R65 Aminoglycoside exposure posing risk to hearing
- R70 Spinal muscular atrophy (SMA)
- R252 SMA carrier testing at population risk for partners of known carriers
- R184 Cystic fibrosis
- R185 Cystic fibrosis carrier testing
- R89 Ultra rare and atypical monogenic disorders
- R111 X-inactivation testing
- R244 Carrier testing for known familial variant(s)
- R246 Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders – Typically 1/70 carrier frequency cutoff for testing, contact laboratory if required
- Inherited cancer core tests
- Prenatal core tests
Referrals and Testing
Whole Genome Sequencing (WGS) tests
Request WGS and find out more about WGS and sample requirements.
All other tests
Referral form for non-WGS tests
Diagnostic referrals are accepted from the Consultant Specialists, as indicated in the National Genomics Test Directory
Referrals for predictive testing are accepted only via Clinical Genetics.
It is essential that the referring clinician provides sufficient clinical information to assist in the interpretation of any findings (ie a copy of a recent clinical letter).
Sample requirements: 2-4 mls blood in EDTA or DNA samples. 2-4 mls blood in Lithium Heparin for tests requiring karyotyping.
Target Reporting Rimes
|
Method |
Routine |
Urgent |
Prenatal (21 days if cell culture required) |
|---|---|---|---|
|
Whole Genome Sequencing |
84 days |
- |
14 days (R21) |
|
Whole Exome Sequencing |
42 days |
- |
- |
|
Sanger Sequencing |
42 days |
14 days |
3 days |
|
SNP Microarray |
42 days |
14 days |
14 days |
|
MLPA |
42 days |
14 days |
3 days |
|
Chromosome Analysis |
42 days |
14 days |
- |
|
FISH |
42 days |
14 days |
3 days |
|
STR Analysis |
42 days |
14 days |
3 days |
|
Carrier testing of known variant |
42 days |
14 days |
- |
|
Predictive testing of known variant |
14 days |
14 days |
As per technology used above |
Updated 26/08/2026