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.

The most common core clinical indications provided in WMRGL are listed below.

Developmental Disorders

R26 Likely common aneuploidy
R27 Congenital malformation and dysmorphism syndromes (microarray and WGS)
R28 Congenital malformation and dysmorphism syndromes (microarray only)
R29 Intellectual disability (microarray, Fragile X and WGS)
R377 Intellectual disability (microarray only)
R47 Angelman syndrome
R48 Prader-Willi Syndrome
R53 Fragile X
R69 Hypotonic Infant (microarray and 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

Inherited cancer core tests

Prenatal core tests

Referrals and testing

Whole Genome Sequencing (WGS) tests

To request WGS please complete a copy of the Record of Discussion Regarding Genomic Testing and the Whole Genome Sequencing Test Request form. Testing for WGS cannot be initiated unless both forms have been fully completed. For more information regarding WGS and sample requirements please click here

All other tests

For non-WGS tests, the referral form can be found here

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

Target Reporting times

Table 1
Method	Routine	Urgent
Whole genome sequencing	84 days	-
Whole exome sequencing	84 days	14-21 days
Sanger sequencing	42 days	3-14 days
SNP microarray	42 days	14 days
MLPA	42 days	3-14 days
Chromosome analysis	42 days	14 days
FISH	42 days	14 days
STR analysis	42 days	3-14 days
Carrier testing of known variant	42 days	3-14 days
Predictive testing of known variant	14 days	3 days