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Cardiology
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R137
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Congenital heart disease – microarray
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Added to eligibility criteria:
Complex congenital heart disease in a neonate/infant undergoing corrective surgery, in whom other syndromic features may not yet be apparent AND a syndromic diagnosis may impact surgical decision making. Test requests must be approved by clinical genetics to proceed.
Amendments to the criteria already present by stating congenital heart disease refers to complex CHD and cleft palate and / or disorder of calcium homeostasis should be present.
Provided an example of non-syndromic CHD in the exclusion criteria: isolated VSD/ASD
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R125
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Thoracic aortic aneurysm or dissection
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Removed criterion points 3. 4. and 7.
Changed threshold for z score in the definition of thoracic aortic aneurysm in children, from >2 to >3.
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R132
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Dilated and arrhythmogenic cardiomyopathy
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Corrected an error by removing criterion 1c.
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R135
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Paediatric or syndromic cardiomyopathy
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Corrected criterion 2 for clarity.
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R140
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Elastin-related phenotypes
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Added to the overlapping clinical indications that patients must meet the criteria for the overlapping clinical indications if these are felt a better test for their patients.
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Multi specialty
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R441
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Unexplained death in infancy and sudden unexplained death in childhood
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Provided more information in the testing criteria and “where in the pathway” to link with the Joint Agency Response.
Clarification that DNA from both biological parents is preferential and to contact the laboratory if this is not possible.
Exclusion criteria have been added:
Testing should not be performed where the likelihood of a monogenic disorder is low for example where the available evidence supports a non-genetic cause of death (e.g. severe infection, suspicious death/homicide investigation).
Requesting specialties:
Added that these should be in liaison with the designated doctor for child deaths.
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Developmental disorders
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R26
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Likely common aneuploidy
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Removed R297 from the overlapping Clinical Indications as R297 has been retired – see separate entry for R297 for details.
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R27
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Paediatric disorders
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Added criteria for unexplained epilepsy as the separate clinical indication for Epilepsy (R59) has been retired.
Added to additional text in the overlapping clinical indications for R14.
Added psychiatry as a requesting specialty as separate Clinical Indication for Intellectual Disability has been retired.
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R29
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Intellectual disability (WGS)
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Clinical indication retired. Patients to be tested under R27 Paediatric disorders where patients meet the criteria for R27.
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R377
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Intellectual disability – microarray only
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Clinical indication retired. Patients to be tested under R27 Paediatric disorders where patients meet the criteria for R27.
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R48
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Prader-Willi syndrome
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Additional criteria added to promote appropriate referrals.
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R69
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Hypotonic infant
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Addition of R452 Silver Russel Syndrome / Temple syndrome to overlapping CIs.
Removal of confirmatory STR CITT R69.6 as the generic code for confirmation test should be used instead.
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Endocrinology
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R314
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Ambiguous genitalia
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Changed name of Clinical Indication by removing “presenting neonatally”.
Amended the criteria that includes non neonatal presentations.
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R142
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Glucokinase-related fasting hyperglycaemia
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Added specialist midwifery to the requesting specialties.
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R146
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Differences in sex development
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Removed R297 as an overlapping clinical indication as R297 has been retired (see separate entry) and added R468 Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis, as new overlapping CI.
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R452
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Silver Russell Syndrome and Temple Syndrome
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Added to the testing criteria, clinical features suggestive or Temple Syndrome for different age groups.
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R453
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Monogenic short stature
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Added table of primary investigations in children referred to secondary and tertiary care with short stature from the British Society for Paediatric Endocrinology and Diabetes recommendations.
Added clarifying statement in the overlapping clinical indications for R52 Short stature – SHOX deficiency. To state that this test should be ordered if you suspect SHOX deficiency as SHOX is not include on the panel test for R453 due to technical limitations.
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R267
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Temple syndrome – maternal uniparental disomy 14
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Retired Clinical Indication. Patients to be tested under R452 Silver Russell Syndrome and Temple Syndrome, where they meet the testing criteria.
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R180
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Congenital adrenal hyperplasia diagnostic test
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Added an additional criterion in the testing criteria:
Female adult with raised 17-OHP and at least one of the following: hirsutism, frontal baldness, delayed menarche or infertility.
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R388
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Linkage testing for congenital adrenal hyperplasia
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Retired Clinical Indication as the generic code for linkage testing should be used instead, R409 Linkage testing for recognisable Mendelian disorders.
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R293
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Albright hereditary osteodystrophy, pseudohypoparathyroidism pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
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Added Paediatrics as a requesting specialty
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R154
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Hypophosphataemia or rickets
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Criteria added to the testing criteria for patients with low ALP that requires one of the following:
• early dental loss OR
• rickets-like changes on X-ray OR
• chronic musculoskeletal pain OR
• atypical femoral fractures OR
• poor healing fractures
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R223
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Inherited phaeochromocytoma and paraganglioma excluding NF1
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Removed from the 6th testing criteria “renal cell cancer (any age)”.
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R158
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Lipodystrophy
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Amended the Clinical Indication name FROM Lipodystrophy – childhood onset TO: Severe insulin resistance and lipodystrophy syndromes.
Amended testing criteria to remove need for childhood onset and added in severe insulin resistance.
Additional genes added to the panel to align with these changes.
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Fetal
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R445
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Common aneuploidy testing – NIPT
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Amended Clinical Indication name
FROM: Common aneuploidy testing – NIPT
TO: T21, T18, T13 aneuploidy testing – NIPT (previous history).
Amended testing criteria to specify the three aneuploidy syndromes that are tested for.
Made amendments to criteria so that R445 and R470 (new CI) are aligned.
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R470
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T21, T18, T13 aneuploidy testing – NIPT NHS Fetal Anomaly Screening Programme (FASP)
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New Clinical Indication.
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R318
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Recurrent miscarriage with products of conception available for testing
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Removed R297 as an overlapping clinical indication as R297 has been retired (see separate entry) and added R464 Recurrent miscarriage where products of conception are not available for testing – parental karyotype, as a new overlapping Clinical Indication.
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R22
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Fetus with a likely chromosomal abnormality
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Added to the criterion for death or stillbirth from 24 weeks to clarify this is referring to intrauterine death.
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R304
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NIPD for cystic fibrosis – haplotype testing
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Error correction, removal of “where parents are consanguineous” from criterion 1.
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R306
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NIPD for Apert syndrome – variant testing
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Removed from criteria testing where there has been a previous pregnancy with confirmed Apert syndrome.
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R307
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NIPD for Crouzon syndrome with acanthosis nigricans – variant testing
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Removed from criteria testing where there has been a previous pregnancy with confirmed Crouzon syndrome.
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R308
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NIPD for FGFR2-related craniosynostosis syndromes – variant testing
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Removed from criteria testing where there has been a previous pregnancy with confirmed FGFR2 related craniosynostosis.
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R309
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NIPD for FGFR3-related skeletal dysplasias – variant testing
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Removed from criteria testing where there has been a previous pregnancy with confirmed FGFR3 related skeletal disorder.
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R433
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NIPD for monogenic diabetes, subtype glucokinase
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Amended Clinical Indication name
FROM: NIPD for monogenic diabetes, subtype glucokinase
TO: Monogenic diabetes, subtype glucokinase – NIPT
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Gastrohepatology
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R177
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Hirschsprung disease
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Retired Clinical Indication. Patients to be tested under R438 Paediatric pseudo-obstruction syndrome, where they meet the testing criteria.
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R438
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Paediatric pseudo-obstruction syndrome
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Added to “where in pathway”:
“This test should be used where testing for Hirschsprung disease is required”.
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Inherited cancer
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R208
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Inherited breast cancer and ovarian cancer
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Error correction: removal of need to reach criteria 2 in the criterion 4b.
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R210
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Inherited MMR deficiency (Lynch syndrome)
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Amended the Lynch related cancers for sebaceous adenomas and carcinoma so that it now reads:
at least two sebaceous adenomas, one or more sebaceous carcinoma. A single sebaceous adenoma does not constitute a Lynch-related cancer.
Amendment to the sentence above the table of associated tests to now read:
Please note that not all the associated tests will be undertaken in every case. The clinical presentation will indicate the tests that are necessary.
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R211
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Inherited polyposis and early onset colorectal cancer – germline test
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Gynaecology added to requesting specialties.
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R414
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APC Associated Polyposis
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Additional 8th criteria added to the testing criteria and change to criteria 7.
Removal of R359 Childhood solid tumour panel, from overlapping clinical indications as R359 has been retired, see separate entry for the details.
Added dermatology to requesting specialties.
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R215
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Hereditary diffuse gastric cancer
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Amendments to criteria 1e, 1g and 1h.
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R359
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Childhood solid tumours
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Retired Clinical Indication. Two new Clinical Indications replace R359. These are R456 and R457. Testing should only be ordered under codes R456 and R457 where patients meet the testing criteria for these new Clinical Indications.
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R220
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Wilms tumour with features suggestive of predisposition
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Retired Clinical Indication. Patients should be tested under the new Clinical Indication R456.
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R358
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Familial rhabdoid tumours
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Retired Clinical Indication. Patients should be tested under the new Clinical Indication R456.
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R456
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Embryonal tumour of possible germline origin
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New Clinical Indication.
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R457
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Sarcoma of possible germline origin
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New Clinical Indication.
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R224
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Inherited renal cancer
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Amendments to criteria 2. and 6.
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R254
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Familial melanoma
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Various changes to the testing criteria.
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R365
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Fumarate hydratase-related tumour syndromes
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Amendment to criteria b.
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R444
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NICE approved PARP inhibitor treatment
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Amendments to criteria R444.1 for breast cancer to align with updated CDF criteria.
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Metabolic
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R450
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Diagnostic testing for Isovaleric acidaemia
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Confirming in the criteria that genetic testing is only where required as part of the diagnostic testing pathway.
Removal of the sentence:
In the case of isovaleric acidaemia, this means that testing is almost exclusively used at those in whom biochemical results indicate a likely pseudodeficiency allele is present.
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Mitochondrial
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R315
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POLG-related disorder
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Removal of R59 as overlapping clinical indication as R59 is retired. Addition of R27 as an overlapping Clinical Indication with note that this should be used, or other relevant broader test, where clinical features are not strongly suggestive of POLG-related disorder and a broader differential diagnosis is under consideration.
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Mosaic and structural chromosomal disorders
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R297
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Possible structural chromosomal rearrangement – karyotype or Targeted Chromosome Analysis
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Clinical Indication retired and replaced with separate Clinical Indications for each of the clinical scenarios where R297 would have been requested. The new Clinical Indications are; R463, R464, R465, R466, R467 and R468
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R463
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Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis
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New Clinical Indication
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R464
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Recurrent miscarriage, products of conception not available – parental karyotype
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New Clinical Indication
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R465
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Familial cytogenetic rearrangement – Karyotype or Targeted Chromosome Analysis
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New Clinical Indication
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R466
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Unexplained infertility – karyotype
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New Clinical Indication
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R467
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Gamete donors – karyotype
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New Clinical Indication
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R468
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Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis
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New Clinical Indication
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R298
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Possible structural or mosaic chromosomal abnormality – FISH
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Removal of R297 as an overlapping Clinical Indication as this has been retired. Addition of two new Clinical Indications in overlapping Clinical Indications; R463 and R465.
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Musculoskeletal
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R104
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Skeletal dysplasia
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Addition to the testing criteria to clarify that isolated short stature, without evidence of an underlying abnormality of the bones is not appropriate to test via this indication. Other overlapping indications may be more appropriate in these cases.
Overlapping Clinical Indications added:
R453 Monogenic short stature
R52 Short stature – SHOX deficiency
Requesting specialties added:
Paediatrics
Endocrinology
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R415
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Cleidocranial dysplasia (CCD)
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Clinical indication retired. Patients to have R104 testing instead, where they meet the testing criteria.
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R101
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Ehler Danlos syndrome with a likely monogenic cause
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Additional testing criteria has been added and states that testing should NOT be used to exclude a diagnosis.
Overlapping clinical indication added:
R125 Thoracic aortic aneurysm or dissection panel includes the COL1A1, COL3A1, COL5A1, COL5A2, PLOD1 and FKBP14 genes and may be a better option for patients presenting with aortic/arterial dilatation or rupture without additional features of EDS. Clarification may be sought from the highly specialised National Ehlers Danlos services:
lnwh-tr.edslondonoffice@nhs.net or eds.sheffield@nhs.net
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R102
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Osteogenesis imperfecta
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Addition to the testing criteria:
Referrals where non-accidental injury is suspected should be discussed with the OI Highly Specialised Service before requesting genomic testing
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R284
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Van der Woude syndrome
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Clinical indication retired. Patients to have R27 testing instead, where they meet the testing criteria.
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Neurology
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R471
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Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing
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New Clinical Indication
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R55.5
R56.4
R57.6
R60.4
R61.5
R78.6
R381.4
R84.5
|
Confirmatory STR testing for various neurology clinical indications
|
Retired Clinical Indication Test Types. The multi purpose test R443 Confirmation test, should be used instead.
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R57
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Childhood onset dystonia, chorea or related movement disorder
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Removal of R29 Intellectual disability as an overlapping Clinical Indication.
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R58
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Adult onset neurodegenerative disorder
|
Retired Clinical Indication. Testing for the four conditions previously all grouped into this single Clinical Indication have now been separated out into four new Clinical Indications:
- R458 Young onset or familial dementia,
- R459 Young onset or complex Parkinson disease,
- R460 Amyotrophic lateral sclerosis,
- R461 Cerebral amyloid angiopathy.
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R458
|
Young onset or familial dementia
|
New Clinical Indication, replacing R58.
|
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R459
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Young onset or complex Parkinson disease,
|
New Clinical Indication, replacing R58.
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R460
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Amyotrophic lateral sclerosis
|
New Clinical Indication, replacing R58.
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R461
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Cerebral amyloid angiopathy
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New Clinical Indication, replacing R58.
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R59
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Early onset or syndromic epilepsy
|
Retired Clinical Indication. Patients who meet the testing criteria for R27 should have this testing instead. The genes for the R59 panel are already on R27.
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R378
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Linkage testing for Duchenne or Becker muscular dystrophy
|
Retired Clinical Indication. The multi purpose test R409 Linkage testing for recognisable Mendelian disorders, should be used instead.
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R82
|
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
|
Addition to where in the pathway that provides information about the Highly Specialised Service.
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R85
|
Holoprosencephaly
|
Change in Clinical Indication name:
FROM: Holoprosencephaly – NOT chromosomal
TO: Holoprosencephaly
Amendments to the testing criteria and to where in the pathway.
Overlapping Clinical Indications added:
- R27 Paediatric disorders or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
- R26 Likely common aneuploidy
- R28 Congenital malformation and dysmorphism syndromes – microarray
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R221
|
Familial tumours of the nervous system
|
Amendments to the testing criteria.
|
|
R222
|
Neurofibromatosis 1
|
Additional testing criteria:
- Axillary/inguinal freckling
- Malignant Peripheral Nerve Sheath Tumour
|
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R337
|
CADASIL
|
Removal of R58 from overlapping Clinical Indications.
Addition of R461 Cerebral amyloid angiopathy as an overlapping Clinical Indication where a broader differential diagnosis is under consideration.
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Respiratory
|
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R190
|
Pneumothorax – familial
|
Testing criteria amendment:
FROM
Primary spontaneous pneumothorax with no identifiable cause, AND one of:
- a first degree relative with primary spontaneous pneumothorax,
OR
- Characteristic radiological features of Birt-Hogg-Dubé syndrome on chest imaging
TO
- Primary spontaneous pneumothorax with no identifiable cause AND a first degree relative with primary spontaneous pneumothorax,
OR
- Characteristic radiological features of Birt-Hogg-Dubé syndrome on chest imaging
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R192
|
Surfactant deficiency
|
Retired Clinical Indication. Patients should be tested for R462 Childhood interstitial lung disease, where they meet the testing criteria.
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R462
|
Childhood interstitial lung disease
|
New Clinical Indication.
|
|
Dermatology
|
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R239
|
Incontinentia pigmenti
|
Addition to the testing criteria to reference IKBKG- related immunodeficiency.
Addition to requesting specialties:
Immunology (+/- Paediatrics).
|
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Ultra rare and atypical monogenic disorders
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R89
|
Ultra-rare and atypical monogenic disorders
|
Addition to the testing criteria:
Requests that include any panel for inherited cancers must be taken to the UKCGG/CanGene-CanVar National Multidisciplinary team meeting and receive delegate approval to proceed.
|
|
Multi purpose tests
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R370
|
Validation test
|
Change of name:
FROM: Validation test
TO: Validation of unaccredited findings
Additional clarification is provided in the testing criteria as to when this test should be used.
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R443
|
Confirmation test
|
Expansion of testing criteria to clarify when this Clinical Indication should be used.
Change in requesting specialties so that only genomics laboratory is the requestor.
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R447
|
Diagnostic discovery – validation/confirmation findings
|
Change of name:
FROM: Diagnostic discovery – validation/confirmation of findings
TO: Validation of WGS Diagnostic discovery findings
|
