The latest major update to the national genomic test directory (NGTD) have been published. It includes numerous changes to rare disease tests including for developmental disorders, neurological conditions, inherited cancers and karyotype analysis.
Access the national genomic test directory
Please review this information and NHS England published documents to ensure you are aware of any updates that may affect your practice.
If you have any questions about changes, please contact us
Major changes (refer to separate posts for further details)
Due to the scale of some of the changes, we have prepared separate posts with detailed guidance for relevant specialists
- Developmental disorder simplification
- Karyotyping order guidance
- Neurology indication changes
- Inherited cancer changes
- Expanding access to PARP inhibitor treatment in breast cancer
Change summary
| Update | Tests affected | Requesting specialisms |
|---|---|---|
| Update Improving first time detection of developmental disorders by simplifying test options across areas including intellectual disability and early onset/syndromic epilepsy |
Tests affected
Removed: R29 intellectual disability (WGS) R377 intellectual disability (microarray) R59 early onset or syndromic epilepsy (WGS) Eligibility changes: R85 Holoproscencephaly Please use: R27 paediatric disorders (WGS) R28 congenital malformation and dysmorphism syndromes (microarray) |
Requesting specialisms Clinical genetics, Paediatrics, Paediatric neurology, Community paediatrics, Psychiatry, Metabolic medicine, Neonatal medicine |
| Update Broadening access to chromosomal analysis in paediatrics and fertility |
Tests affected
Removed: R297 Possible structural chromosomal rearrangement Replaced with: R463 Cytogenetic characterisation of a genomic abnormality R464 Recurrent miscarriage, products of conception not available R465 Familial cytogenetic rearrangement R466 Unexplained infertility R467 Gamete donors R468 Possible sex chromosome aneuploidy or structural rearrangement |
Requesting specialisms Clinical genetics, Fetal medicine, Endocrinology, Paediatrics, Gynaecology, Reproductive medicine, Fertility centres |
| Update More comprehensive reporting for neurological disorders via whole genome sequencing using a combined gene superpanel (expected in May 2026) |
Tests affected
Changed: R54 Hereditary ataxia with onset in adulthood R56 Adult-onset dystonia, chorea or relatedmovement disorder R60 Adult-onset hereditary spastic paraplegia Removed: R58 adult-onset neurodegeneration Replaced with: R458 Young onset or familial dementia R459 Young onset or complex Parkinson disease R460 Amyotrophic lateral sclerosis R461 Cerebral amyloid angiopathy |
Requesting specialisms Clinical genetics, Neurology, Psychiatry, |
| Update Improving diagnostic outcomes for inherited cancers |
Tests affected
Removed: R220 Wilms tumour with features suggestive of predisposition (small gene panel, methylation testing) R358 Familial rhabdoid tumours (small gene panel) R359 Childhood solid tumours (medium gene panel/ whole exome sequencing) Added: R456 Embryonal tumour of possible germline origin (medium gene panel, methylation testing) R457 Sarcoma of possible germline origin (small gene panel) |
Requesting specialisms Clinical genetics, Oncology, Paediatric oncology |
| Update Expanded access to adjuvant PARP inhibitors in breast cancer aligned with NICE guidance |
Tests affected
Altered eligibility: R444.1 to determine eligibility for NICE approved PARP inhibitor treatment in breast cancer |
Requesting specialisms Clinical genetics, Surgery, Oncology |
Further notable changes
In addition to the changes indicated above, other notable changes are included in the table below. There are further minor changes not listed here. You should always check the latest national genomic test directory before ordering a test.
| Specialism | Clinical Indication ID | Clinical Indication | Ordering specialisms |
|---|---|---|---|
| Specialism Neurology | Clinical Indication ID R471 | Clinical Indication Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing | Ordering specialisms Clinical genetics |
| Specialism | Clinical Indication ID | Clinical Indication | Action to take |
|---|---|---|---|
| Specialism Endocrinology | Clinical Indication ID R267 | Clinical Indication Temple syndrome – maternal uniparental disomy 14 | Action to take For eligible patients order R452 instead (see below) |
| Specialism Endocrinology | Clinical Indication ID R388 | Clinical Indication Linkage testing for congenital adrenal hyperplasia | Action to take For eligible patients order R409 instead |
| Specialism Gastrohepatology | Clinical Indication ID R177 | Clinical Indication Hirschsprung disease | Action to take For eligible patients order R438 instead |
| Specialism Musculoskeletal | Clinical Indication ID R415 | Clinical Indication Cleidocranial dysplasia | Action to take For eligible patients order R409 or R104 instead |
| Specialism Musculoskeletal | Clinical Indication ID R284 | Clinical Indication Van der Woude syndrome | Action to take Consider R27 (see developmental disorders update above) |
| Specialism Neurology | Clinical Indication ID R378 | Clinical Indication Linkage testing for Duchenne or Becker muscular dystrophy | Action to take For eligible patients order R409 instead |
| Specialism Respiratory | Clinical Indication ID R192 | Clinical Indication Surfactant deficiency | Action to take Replaced with R462 (see below) |
| Specialism | Clinical Indication ID | Clinical Indication | Change |
|---|---|---|---|
| Specialism Core | Clinical Indication ID R48 | Clinical Indication Prader-Willi syndrome | Change There is no longer a need to consult clinical genetics before ordering. Additional testing criteria are provided to inform appropriate testing. |
| Specialism Multi-specialty | Clinical Indication ID R441 | Clinical Indication Unexplained death in infancy and sudden unexplained death in childhood | Change Orders must be made in consultation with the designated doctor for child deaths and follow a joint agency response review of circumstances. Parental DNA samples must be available for comparative testing except in exceptional circumstances. |
| Specialism Inherited cancer | Clinical Indication ID R208 | Clinical Indication Inherited breast cancer and ovarian cancer | Change Minor change to criteria for testing deceased individuals. |
| Specialism Inherited cancer | Clinical Indication ID R210 | Clinical Indication Inherited MMR deficiency (Lynch syndrome) | Change Clarification that a single sebaceous adenoma is not sufficient criteria for testing. |
| Specialism Inherited cancer | Clinical Indication ID R211 | Clinical Indication Inherited polyposis and early onset colorectal cancer - germline test | Change Testing can now be ordered by gynaecology specialists. |
| Specialism Inherited cancer | Clinical Indication ID R215 | Clinical Indication Hereditary diffuse gastric cancer | Change Changes to criteria for personal/family history of lobular breast cancer. |
| Specialism Inherited cancer | Clinical Indication ID R224 | Clinical Indication Inherited renal cancer | Change Change to second eligibility criterion. |
| Specialism Inherited cancer | Clinical Indication ID R254 | Clinical Indication Familial melanoma | Change Significant revisions to eligibility criteria. |
| Specialism Inherited cancer | Clinical Indication ID R365 | Clinical Indication Fumarate hydratase-related tumour syndromes | Change Changes to criteria for cases with uterine leiomyomata. |
| Specialism Inherited cancer | Clinical Indication ID R414 | Clinical Indication APC Associated Polyposis | Change Dermatology can now request testing. Testing criteria added in relation to medulloblastoma and pilomatrixoma. |
| Specialism Cardiology | Clinical Indication ID R137 | Clinical Indication Congenital heart disease – microarray | Change Testing may be used to inform surgical decision making. Approval from clinical genetics is required. |
| Specialism Cardiology | Clinical Indication ID R125 | Clinical Indication Thoracic aortic aneurysm or dissection | Change Removal of several testing criteria |
| Specialism Endocrinology | Clinical Indication ID R142 | Clinical Indication Glucokinase-related fasting hyperglycaemia | Change Specialist midwifery can now request testing. |
| Specialism Endocrinology | Clinical Indication ID R314 | Clinical Indication Ambiguous genitalia | Change No longer requires neonatal presentation. Eligibility criteria revised. |
| Specialism Endocrinology | Clinical Indication ID R293 | Clinical Indication Albright hereditary osteodystrophy, pseudohypoparathyroidism pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis | Change Paediatrics can now order testing. |
| Specialism Endocrinology | Clinical Indication ID R452 | Clinical Indication Silver Russell Syndrome and Temple Syndrome | Change Test criteria now include details of ordering testing for Temple Syndrome following removal of R267. |
| Specialism Endocrinology | Clinical Indication ID R453 | Clinical Indication Monogenic short stature | Change Addition guidance provided on testing criteria. Note SHOX deficiency should be tested through R52. |
| Specialism Musculoskeletal | Clinical Indication ID R104 | Clinical Indication Skeletal dysplasia | Change Should only be used where there is clear evidence of bone abnormality. Consider testing through R52 or R453. |
| Specialism Prenatal |
Clinical Indication ID
R306, R307, R308, R309 |
Clinical Indication NIPD for Apert syndrome, Crouzon syndrome with acanthosis nigricans, FGFR2-related craniosynostosis syndromes or FGFR3-related skeletal dysplasias | Change A previous pregnancy with a confirmed variant for these conditions is no longer a criterion for testing. |
| Specialism Neurology | Clinical Indication ID R82 | Clinical Indication Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | Change Additional guidance provided on clinical pathway and involvement of the HSS for neuromuscular disorders. |
| Specialism Dermatology | Clinical Indication ID R239 | Clinical Indication Incontinentia pigmenti | Change Immunology and Paediatric immunology can now order testing. Patients with IKBKG-related immunodeficiency are eligible for testing. Non-specific presentation may be better suited to R15, R163, R236 or other broader tests. |
If you have any questions, please contact us.