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

 

 

 

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

 

 

Updated 23/05/2022

Did you find what you were looking for? Please rate your experience out of 5 (with 5 being the highest and 1 being the lowest)

Did you find what you were looking for? Please rate your experience out of 5 (with 5 being the highest and 1 being the lowest)
Rating