|
Disease |
OMIM |
UKGTN service*
(Approved, Pending, N/A) |
|
Acute Lymphoblastic Leukaemia (ALL)/BCR-ABL |
151410, 189980 |
N/A
|
|
Acute Myeloid Leukaemia /AML/ AML-M2 |
601626, 133435 |
N/A
|
|
Acute Promyelocytic Leukaemia (APL)/AML
M3/AML-15/MRD monitoring |
102578, 180240 |
N/A
|
|
Amyotrophic Lateral Sclerosis 1 (SOD1) |
105400 |
N/A |
|
Adrenoleukodystrophy, X-linked
(X-ALD) |
300100 |
N/A |
|
Alpha-thalassaemia |
604131, 141800, 141850 |
N/A |
|
Androgen Insensitivity Syndrome (CAIS, PAIS,
MAIS, androgen receptor, AR)
|
300068
|
Approved
|
|
Antithrombin deficiency (antithrombin III deficiency, SERPINC1)
|
107300
|
N/A |
|
ApoE (E2 allele for Hyperlipidemia/Hyperlipoproteinaemia
Type III only)
|
107741
|
Approved
|
|
Ataxia telengiectasia (ATM) |
208900 |
N/A |
|
BCR-ABL
|
151410,189980,#608232
|
N/A
|
|
BCR-ABLQ (Quantitative)
|
151410,189980,#608232
|
N/A
|
|
Beta-thalassaemia |
604131, 141900 |
N/A |
|
BRAF testing as HNPCC pre-screen |
N/A
|
N/A
|
|
BRAF testing for response to anti-EGFR treatment
(p.Val600Glu mutation)
|
N/A |
N/A |
|
Carnitine Acylcarnitine Translocase (CACT) deficiency |
212138
|
Approved
|
|
c-KIT (D816V) mutation |
N/A
|
N/A
|
|
Carnitine Palmitoyl Transferase Type II deficiency (CPT2
deficiency)
|
255110, 600649, 608836
|
Approved
|
|
CBCL/CTCL / Skin lymphoma/ mycosis fungoides (IgH
or T cell gene rearrangements) |
N/A
|
N/A
|
|
Cerebral AD Arteriopathy with Subcortical
Infarcts & Leukoencephalopathy (CADASIL) |
125310
|
N/A
|
|
Cerebellar Ataxias, DRPLA, Friedreich ataxia,
SCA1, SCA2, SCA3, SCA6, SCA7
|
125370, 229300, 164400, 183090, 109150, 183086, 164500
|
Approved
|
|
Chimerism/pre or post bone marrow/stem cell
transplant (BMT/SCT)/donor for BMT/SCT/matched
unrelated donor (MUD) |
N/A |
N/A |
|
Chronic Myeloid Leukaemia (CML)/BCR-ABL |
608232, 151410, 189980 |
N/A |
|
CPEO
|
157640
|
Approved
|
|
Crigler-Najjar Syndrome (CNI, CNII, UGT1A1)
|
218800, 606785
|
N/A
|
|
Cystic Fibrosis (CF,CFTR)
|
219700
|
Approved
|
|
Diamond Blackfan Anaemia |
105650 |
|
|
Dopa-responsive dystonia (Segawa syndrome),
dominant
GCH1 deficient |
233910
|
Approved
|
|
Dopa-responsive dystonia, recessive
Tyrosine hydroxylase deficient |
605407
|
Approved
|
|
Dystonia 1 or Idiopathic Torsion Dystonia, dominant |
128100
|
Approved
|
|
EGFR gene analysis |
|
|
|
Ehlers Danlos syndrome type I (COL5A1 and COL5A2) |
130000,130010 |
N/A |
|
Ehlers-Danlos syndrome, Type IV
|
130050
|
N/A
|
|
Ehlers Danlos syndrome type VI (kyphoscoliotic
PLOD1) |
225400 |
N/A |
|
Episodic ataxia type 1 |
160120 |
|
|
Episodic ataxia type 2 |
108500 |
|
|
Familial Adenomatous Polyposis, Gardner syndrome, Turcots
syndrome, Hereditary Desmoid disease (APC)
|
175100, 175100, 276300, 135290
|
Approved
|
|
Familial hemiplegic migraine type 1 |
141500 |
|
|
Familial motor neurone disease / amyotrophic lateral sclerosis
(ALS)
SOD1 and TARDBP genes |
147450, 605078 |
|
|
Fanconi Anaemia
(FANCC gene) |
227650,227645 |
N/A |
|
Fanconi Anaemia
(FANCA gene) |
227650, 607139 |
N/A |
|
Fanconi Anaemia
(FANCD1 gene) |
227650, 605724 |
N/A |
|
Fragile X syndrome
|
309550
|
Approved
|
|
Fructose-1,6-Bisphosphatase deficiency (FBP1)
|
229700
|
N/A
|
|
Fumarate Hydratase deficiency (FH; Fumarase deficiency)
|
606812
|
Approved
|
|
Gilbert Syndrome (UGT1A1, hyperbilirubinaemia)
|
143500
|
Approved
|
|
Glanzmann Thrombasthenia
(GP2B and GP3A genes) |
273800, 187800 |
N/A |
|
Glutaric Acidaemia Type I (GA1, glutaric aciduria type 1, GCDH)
|
231670
|
Approved
|
|
Glycogen Storage Disease Type 0 (GSD0, GYS2, glycogen synthase
deficiency)
|
240600
|
N/A
|
|
Glycogen Storage Disease Type Ia (GSD1a, G6PC,
glucose-6-phophatase deficiency, Von Gierke
Disease)
|
232200
|
Approved
|
|
Glycogen Storage Disease Type I non-a (GSD1b, SLC37A4, G6PT,
glucose-6-phosphate transporter deficiency)
|
602671
|
Approved
|
|
Glycogen Storage Disease Type II (GSD2, GAA, acid maltase
deficiency, acid alpha-glucosidase deficiency,
Pompe Disease)
|
232300
|
N/A
|
|
Glycogen Storage Disease Type III (GSD3, AGL, glycogen debrancher
deficiency, Forbes/Cori Disease)
|
232400
|
N/A
|
|
Glycogen Storage Disease Type IV (GSD4, GBE1, glycogen brancher
deficiency, Anderson Disease, adult polyglucosan
body disease)
|
232500 & 263570
|
N/A
|
|
Glycogen Storage Disease Type V (GSD5, PYGM, muscle glycogen
phosphorylase deficiency, McArdle Disease)
|
232600
|
N/A
|
|
Glycogen Storage Disease Type VI (GSD6, PYGL, liver glycogen
phosphorylase deficiency, Hers Disease)
|
232700
|
N/A
|
|
Glycogen Storage Disease Type VII (GSD7, PFKM,
phosphofructokinase deficiency, Tarui Disease)
|
232800
|
N/A
|
|
Glycogen Storage Disease Type IX (GSD9, PHKA2, PHKB, PHKG2,
glycogen phosphorylase kinase deficiency)
|
306000, 172490, 172470
|
N/A
|
|
Haemochromatosis (HFE)
|
235200
|
N/A
|
|
Haemophilia A (F8)
|
306700
|
Approved
|
|
Haemophilia B (F9)
|
306900
|
Approved
|
|
(Haemophilia C) Factor XI deficiency (F11)
|
264900
|
N/A
|
|
Hereditary Leiomyomatosis with renal cell carcinoma (HLRCC/MCUL)
(FH gene) |
605839
|
Pending
|
|
Hereditary Non Polyposis Carcinoma of Colon (HNPCC)
MLH1/MSH2/MSH6 genes |
120435, 609310
|
Approved
|
|
Hereditary Spastic Paraplegia 3 (ATL1)
|
182600
|
N/A
|
|
Hereditary Spastic Paraplegia 4 (SPAST)
|
182601
|
Approved
|
|
Huntington Disease
|
143100
|
Approved
|
|
Immunoglobulin heavy chain gene rearrangement (IgH)/B cell
lymphocytosis/B cell gene rearrangement
|
147100, 186970, 186000
|
N/A
|
|
JAK2 (V617F mutation) |
147796 |
N/A
|
|
JAK2 Exon 12 mutation screening |
147796 |
N/A
|
|
Kearns-Sayre syndrome
|
530000
|
Approved
|
|
KRAS (
v-Ki-ras2 Kirsten rat sarcoma viral oncogene
homolog )
codons 12, 13 and 61 only
|
N/A
|
N/A
|
|
Leber Hereditary Optic Neuropathy (LHON) |
535000
|
Approved
|
|
Leigh syndrome
|
256000
|
Approved
|
|
Long Chain Hydroxyl-CoA-Dehydrogenase deficiency (LCHAD
deficiency, HADHA)
|
609016
|
Approved
|
|
Medium Chain Acyl-CoA-Dehydrogenase deficiency (MCAD deficiency,
ACADM)
|
201450
|
Approved
|
|
MELAS
|
540000
|
Approved
|
|
MERRF
|
545000
|
Approved
|
|
Metabolic Myopathy screen (CPT2, PYGM common mutations) |
255110, 232600 |
N/A |
|
Methylentetrahydrofolate Reductase deficiency (MTHFR deficiency,
thermolabile variant)
|
236250
|
Approved
|
|
Microsatellite Instability Analysis (MSI) |
|
|
|
Multiple Colorectal Adenomas (MYH gene) |
|
|
|
Multiple Endocrine Neoplasia Type 1
(MEN1 gene) |
131100
|
Approved |
|
Multiple Endocrine Neoplasia Type 2 and Familial Medullary Tyroid
Carcinoma (RET gene) |
171400, 162300, 155240
|
Approved |
|
Multiple Cutaneous & Uterine Myomatoma (MCUL) |
150800
|
Pending
|
|
Myeloproliferative disorder/essential thrombocythaemia(ET)/polycythaemia
rubra vera (PRV)/ myelofibrosis (MF) - JAK2 |
263300, 254450, 187950 |
N/A |
|
Myoclonus-dystonia syndrome (SGCE) |
604149 |
|
|
Myotonic dystrophy 1
|
160900
|
Approved
|
|
Osteogenesis imperfecta type I
|
166200
|
N/A
|
|
Osteogenesis imperfecta type II
|
166210
|
Approved
|
|
Osteogenesis imperfecta type III
|
259420
|
Approved
|
|
Osteogenesis imperfecta type IV
|
Osteogenesis imperfecta type IV
|
Approved
|
|
Osteogenesis Imperfecta Autosomal Recessive
(CRTAP) |
610854, 610682
|
N/A
|
|
Osteogenesis Imperfecta Autosomal Recessive
(LEPRE1)
|
610915
|
N/A
|
|
Osteogenesis Imperfecta
autosomal recessive
Peptidylprolyl Isomerase B (PPIB) |
N/A |
N/A |
|
Osteoporosis/osteoporosis
pseudoglioma (OPPG)
-LRP5 gene |
259770 |
N/A |
|
Peroxisome Biogenesis Disorders (PBD, Zellweger Syndrome
spectrum, ZSS, Infantile Refsum Disease,
neonatal adrenoleukodystrophy, NALD, PEX1, PEX6,
PEX12, PEX26)
|
214100
|
N/A
|
|
PIK3CA testing for response to anti-EGFR treatment
|
N/A
|
N/A
|
|
Polycystic Kidney Disease, Autosomal dominant |
173900, 601313, 173910 |
Approved |
|
Protein C deficiency (PROC)
|
176860
|
N/A
|
|
Protein S deficiency (PROS1)
|
176880
|
N/A
|
|
Prothrombin (3' non 20210G>A prothrombin variants) |
176930 |
N/A |
|
Pseudoxanthoma Elasticum (PXE)
|
264800
|
N/A
|
|
Quantitative BCR-ABL (MRD) |
151410, 189980 |
N/A
|
|
Sickle cell disease |
603903 |
Approved |
|
Spinal and Bulbar Muscular Atrophy, (Kennedy disease), X-linked
|
313200
|
Approved
|
|
Spinal Muscular Atrophy, 5q-linked |
253300
|
Approved
|
|
T cell lymphocytosis / T cell receptor gene rearrangements (TCR) |
N/A
|
N/A
|
|
Trimethylaminuria (TMAU, FMO3, flavin-containing mono-oxygenase 3
deficiency, fish odour syndrome)
|
602079
|
N/A
|
|
UKALL2003/UKALLR3 MRD TRIALS |
N/A
|
N/A
|
|
Urea Cycle Disorders
(OTC, CPS1, NAGS, ASL, ASS) |
311250, 237300, 237310, 207900, 215700 |
N/A |
|
Wilms Tumour,Denys Drash syndrome, Frasier syndrome,Mesangial
Sclerosis (WT1)
|
194070,194080, 256370, 256370
|
Approved
|
|
Very Long Chain Acyl-CoA Dehydrogenase deficiency (VLCAD
deficiency, ACADVL)
|
201475
|
N/A
|
|
von Willebrand Disease types 1, 2A, 2B, 2M, 2N and 3 |
193400, #277480
|
N/A |
|
Platelet-type (pseudo) von Willebrand disease (GP1BA) |
177820 |
|
|
Warfarin resistance
(VKORC1 gene analysis) |
122700, 608547 |
|
|
Wilson Disease (ATP7B)
|
277900
|
Approved
|