| National Genomic Test Directort (R number) | Proforma | Notes |
| R14 Acutely unwell children with a likely monogenic disorder | R14__Rapid_WGS_Test_request_form_v5.0.pdf | To be requested via Clinical Genetics (ref1021) |
| R15 Primary Immunodeficiency | R15 Primary Immunodeficiency Pre-Test Proforma | |
| R21 Fetal anomalies with a likely genetic cause | Rapid-Fetal-Exome-sequencing.pdf | To be requested via Clinical Genetics (ref1021) |
| R27 Paediatric disorders | X | To be requested via Clinical Genetics (ref1021) |
| R54 Hereditary ataxia with onset in adulthood | Centogene_request_Form_NEURO + Ataxia repeat expansion | |
| R55 Hereditary ataxia with onset in childhood | Centogene_request_Form_NEURO + Ataxia repeat expansion | |
| R56 Adult onset dystonia, chorea, or related movement disorder | Centogene_request_Form_NEURO | |
| R57 Childhood onset dystonia, chorea or related movement disorder | Centogene_request_Form_NEURO | |
| R58 Adult onset neurodegenerative disorder | Centogene_request_Form_NEURO or NEURO + C9ORF72 (if MND) | |
| R59 Early onset or syndromic epilepsy (retired on the NHSE TD but still available on EPIC) | EIEE 72 gene panel – Pre test proforma | |
| R60 Adult onset hereditary spastic paraplegia | Centogene_request_Form_NEURO | |
| R61 Childhood onset hereditary spastic paraplegia | Centogene_request_Form_NEURO | |
| R62 Adult onset leukodystrophy | Centogene_request_Form_NEURO | |
| R63 Possible mitochondrial disorder – nuclear genes | Newcastle mito test request form | |
| R64 MELAS or MIDD | Newcastle mito test request form | |
| R65 Aminoglycoside exposure posing risk to hearing | Newcastle mito test request form | |
| R74 Facioscapulohumeral muscular dystrophy | FSHD proforma for further DNA testing2.pdf | |
| R78 Hereditary neuropathy or pain disorder | Centogene_request_Form_NEURO | |
| R83 Arthrogryposis | X | Prefilled proforma not done yet |
| R84 Cerebellar anomalies | X | CentoNeuro NOT the most appropriate option |
| R85 Holoprosencephaly – NOT chromosomal | X | Not established the most appropriate panel |
| R86 Hydrocephalus | X | Not established the most appropriate panel |
| R87 Cerebral malformation | X | Not established the most appropriate panel |
| R90 Bleeding and platelet disorders | R90 & R97 Inherited Coagulation Bleeding, Thrombotic and Platelet Disorders Request Form | |
| R91 Cytopenia – NOT Fanconi anaemia | Rare Disease in Molecular Haematology Testing Service Genomic Panel Request Form | |
| R92 Rare anaemia | Rare Disease in Molecular Haematology Testing Service Genomic Panel Request Form | |
| R93 Sickle cell, thalassaemia and other haemoglobinopathies | Genotyping of Haemoglobin Disorders Request Form | |
| R93 Sickle cell – prenatal | LF-HAE-PND072 Fetal referral form | |
| R96 Iron metabolism disorders – NOT common HFE variants | Disorders of Iron Regulation Request Form | |
| R97 Thrombophilia with a likely monogenic cause | Inherited Coagulation Bleeding, Thrombotic and Platelet Disorders | |
| R98 Likely inborn error of metabolism | Centogene_request_form_CENTO_IEM | |
| R102 Osteogenesis imperfecta | Centogene_request_form_Abn_Min | |
| R104 Skeletal dysplasia | X | Not established the most appropriate panel |
| R109 Childhood onset leukodystrophy | X | Not established the most appropriate panel |
| R141 Monogenic diabetes | EGL_REQUEST-FORM_MODY_R141 & R142 | |
| R142 Glucokinase-related fasting hyperglycaemia | EGL_REQUEST-FORM_MODY_R141 & R142 | |
| R143 Neonatal diabetes | EGL-Neonatal Diabetes Request Form R143 | |
| R144 Congenital hyperinsulinism | EGL-Hyperinsulinism-Request-Form-Dec-2023 | |
| R149 Severe early-onset obesity | Centogene_request_form_OBESITY | |
| R151 Familial hyperparathyroidism or Hypocalciuric hypercalcaemia | Endocrine disorders Exeter general proforma | |
| R153 Familial hypoparathyroidism | Endocrine disorders Exeter general proforma | |
| R160 Primary pigmented nodular adrenocortical disease | Endocrine disorders Exeter general proforma | |
| R175 Pancreatitis | Centogene_request_form_Pancreatitis | |
| R176 Gilbert syndrome | SE GLH KRCC MOLECULAR PATHOLOGY Request form | |
| R191 Alpha-1-antitrypsin deficiency | SE GLH KRCC MOLECULAR PATHOLOGY Request form | |
| R195 Proteinuric renal disease | Centogene_request_form_CENTONEPHRO | |
| R204 Hereditary systemic amyloidosis | HEREDITARY AMYLOIDOSIS R204 Proforma | |
| R217 Endocrine Neoplasia | Endocrine disorders Exeter general proforma | |
| R229 Confirmed Fanconi anaemia or Bloom syndrome – variant testing | Rare Disease in Molecular Haematology Panel Request Form | |
| R231 Neuronal ceroid lipofuscinosis | Centogene_request_form_CENTO_IEM | |
| R257 Unexplained young onset end-stage renal disease | Centogene_request_form_CENTONEPHRO | |
| R258 Cytopenia – Fanconi breakage testing indicated | Rare Disease in Molecular Haematology Panel Request Form | |
| R259 Nijmegen breakage syndrome | Rare Disease in Molecular Haematology Panel Request Form | |
| R270 Smith-Lemli-Opitz syndrome | Centogene_request_form_CENTO_IEM | |
| R271 Neuronal ceroid lipofuscinosis type 2 | Centogene_request_form_CENTO_IEM | |
| R272 Gaucher disease | Centogene_request_form_CENTO_IEM | |
| R273 Glycogen storage disease V | Centogene_request_form_CENTO_IEM | |
| R274 Glycogen storage disease | Centogene_request_form_CENTO_IEM | |
| R275 Glutaric acidaemia I newborn screening follow up | Centogene_request_form_CENTO_IEM | |
| R276 Lysosomal storage disease | Centogene_request_form_CENTO_IEM | |
| R279 Isovaleric acidaemia | Centogene_request_form_CENTO_IEM | |
| R280 Krabbe disease – GALC deficiency | Centogene_request_form_CENTO_IEM | |
| R281 Krabbe disease – Saposin deficiency | Centogene_request_form_CENTO_IEM | |
| R285 Sandhoff disease | Centogene_request_form_CENTO_IEM | |
| R286 Tay-Sachs disease | Centogene_request_form_CENTO_IEM | |
| R287 Mucopolysaccharidosis type IVA | Centogene_request_form_CENTO_IEM | |
| R288 GM1 Gangliosidosis mucopolysaccharidosis Type IVB | Centogene_request_form_CENTO_IEM | |
| R290 Mucopolysaccharidosis type VI | Centogene_request_form_CENTO_IEM | |
| R291 Mucopolysaccharidosis type IIIA | Centogene_request_form_CENTO_IEM | |
| R292 Mucopolysaccharidosis type IIIB | Centogene_request_form_CENTO_IEM | |
| R299 mtDNA rearrangement (long range PCR) | Newcastle mito test request form | |
| R300 mtDNA full genome sequencing (NGS) | Newcastle mito test request form | |
| R301 mtDNA depletion (real-time PCR) | Newcastle mito test request form | |
| R313 Neutropaenia consistent with ELANE variants | Rare Disease in Molecular Haematology Panel Request Form | |
| R315 POLG-related disorder | Newcastle mito test request form | |
| R316 Pyruvate dehydrogenase (PDH) deficiency | Newcastle mito test request form | |
| R317 Mitochondrial Liver Disease, including transient infantile liver failure | Newcastle mito test request form | |
| R334 Cystinosis | Centogene_request_form_CENTO_IEM | |
| R338 Monitoring for G(M)CSF escape variants | Rare Disease in Molecular Haematology Panel Request Form | |
| R350 MERRF common pathogenic variants | Newcastle mito test request form | |
| R351 NARP or maternally inherited Leigh syndrome | Newcastle mito test request form | |
| R352 Mitochondrial DNA maintenance disorder | Newcastle mito test request form | |
| R353 Mitochondrial disorder with complex I deficiency | Newcastle mito test request form | |
| R354 Mitochondrial disorder with complex II deficiency | Newcastle mito test request form | |
| R355 Mitochondrial disorder with complex III deficiency | Newcastle mito test request form | |
| R356 Mitochondrial disorder with complex IV deficiency | Newcastle mito test request form | |
| R357 Mitochondrial disorder with complex V deficiency | Newcastle mito test request form | |
| R381 Other rare neuromuscular disorders | ||
| R394 MNGIE – TYMP Gene Sequencing | Newcastle mito test request form | |
| R395 Thiamine metabolism dysfunction syndrome 2 – SLC19A3 Gene Sequencing | Newcastle mito test request form | |
| R396 Mitochondrial complex V deficiency, TMEM70 type | Newcastle mito test request form | |
| R397 Maternally inherited cardiomyopathy – m.4300A>G | Newcastle mito test request form | |
| R403 MCADD – medium chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing | Centogene_request_form_CENTO_IEM | |
| R403 MCADD – Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow-up | Centogene_request_form_CENTO_IEM | |
| R405 Hereditary Erythrocytosis | Rare Disease in Molecular Haematology Panel Request Form | |
| R406 Thrombocythaemia | Rare Disease in Molecular Haematology Panel Request Form | |
| R413 Autoinflammatory disorders | Hereditary autoinflammatory disorders R413 Proforma | |
| R419 Acute rhabdomyolysis | X | Not established the most appropriate panel |
| R430 Inherited prostate cancer | Centogene_request_form_CentoBreast | |
| R431 Genome-wide DNA Methylation Profiling to Aid Variant Interpretation | EpiPro Methylation Array Test Request Form | |
| R444 NICE approved PARP inhibitor treatment | Centogene_request_form_CentoBreast | |
| R449 Diagnostic testing for Glutaric acidaemia I | Centogene_request_form_CENTO_IEM | |
| R451 Diagnostic testing for MCADD – Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing | Centogene_request_form_CENTO_IEM | |
| Other: Severe microcephaly1 | x | Not established the most appropriate panel |