|
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 |
|
Bruck
Syndrome (PLOD2) |
609220, 601865 |
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, SCA17 |
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 (Classical
COL5A1 and COL5A2) |
130000, 130010 |
N/A |
|
Ehlers Danlos
syndrome type I (COL5A1
- Null allele testing) |
130000, 130010 |
N/A |
|
Ehlers-Danlos
syndrome, Type IV
(Vascular
COL3A1) |
130050 |
N/A |
|
Ehlers Danlos syndrome type VI
(kyphoscoliotic PLOD1) |
225400 |
N/A |
|
Ehlers Danlos
syndrome type VII (Athrochalasic
COL1A1, COL1A2) |
130060 |
N/A |
|
Episodic ataxia type 1 |
160120 |
|
|
Episodic ataxia type 2 |
108500 |
|
|
Factor XIII Deficiency (F13A1, F13B) |
613225, 134570, 613235, 134570 |
N/A |
|
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 |
|
Fanconi Anaemia
(FANCG gene) |
602956, 614082 |
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
|
|
Hereditary Spastic Paraplegia 31 (REEP1) |
610250 |
|
|
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
|
166220 |
Approved
|
|
Osteogenesis Imperfecta Autosomal Recessive
type IIB (CRTAP) |
610854, 610682
|
N/A
|
|
Osteogenesis Imperfecta Autosomal Recessive
type XI (LEPRE1)
|
610339, 610915
|
N/A
|
|
Osteogenesis
Imperfecta
autosomal recessive type VII
Peptidylprolyl
Isomerase B
(PPIB) |
123841, 259440 |
N/A |
|
Osteogenesis Imperfecta Autosomal Recessive
type X (SERPINH1) |
600943, 613848 |
N/A |
|
Osteogenesis Imperfecta Autosomal Recessive
type XII (SERPINF1) |
172860, 613982 |
N/A |
|
Osteogenesis Imperfecta Autosomal Recessive
type VI (FKBP10) |
607063, 610698 |
N/A |
|
Osteogenesis Imperfecta Autosomal Recessive
type XI (SP7) |
606633, 613849 |
N/A |
|
Osteoporosis/osteoporosis
pseudoglioma
(OPPG) -LRP5 gene |
603506 |
N/A |
|
Peroxisome
Biogenesis Disorders (PBD,
Zellweger
Syndrome spectrum, ZSS, Infantile
Refsum Disease,
neonatal
adrenoleukodystrophy, NALD, PEX1,
PEX6, PEX10, PEX12, PEX26) |
214100
|
N/A
|
|
PIK3CA testing for response to anti-EGFR
treatment
|
N/A
|
N/A
|
|
Polycystic Kidney Disease, Autosomal
dominant (PKD1, PKD2) |
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 |
|
Sickle cell disease (newborn screening -
transfused babies) |
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, ASS1, ARG1) |
311250, 237300, 237310, 207900, 215700,
207800 |
Approved |
|
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 |
N/A |
|
Warfarin
resistance
(VKORC1 gene analysis) |
122700, 608547 |
N/A |
|
Wilms
Tumour, Frasier syndrome,
Denys
Drash syndrome,
(Wilms Tumour
Suppressor) |
194080, 607102 |
N/A |
|
Wilson Disease (ATP7B)
|
277900
|
Approved
|