|
Disease |
OMIM |
UKGTN service* |
|
Acute myeloid leukaemia screen
(AML1-ETO, CBFB-MYH11) |
133435,121360/160745 |
No |
|
Acute promyelocytic leukaemia
screen (PML-RARA) |
102578, 180240 |
No |
|
Amyotrophic Lateral Sclerosis 1
(SOD1) |
105400 |
No |
|
Androgen Insensitivity Syndrome (CAIS/PAIS/MAIS) |
300068 |
No |
|
Antithrombin
deficiency (SERPINC1) |
107300 |
No |
|
ApoE (E2 allele for
Hyperlipidemia Type III only) |
107741 |
No |
|
BCR-ABL |
151410,189980,#608232 |
No |
|
BCR-ABLQ (Quantitative) |
151410,189980,#608232 |
No |
|
CADASIL |
125310 |
No |
|
Cerebellar Ataxias, DRPLA,
Friedreich ataxia, SCA1, SCA2, SCA3, SCA6, SCA7 |
125370, 229300, 164400, 183090,
109150, 183086, 164500 |
Yes |
|
Carnitine Acylcarnitine
Translocase (CACT) |
212138 |
No |
|
Carnitine Palmitoyl Transferase
Type II (CPT2) |
255110, 600649, 608836 |
No |
|
Chimerism studies following bone
marrow transplantation |
|
No |
|
CPEO |
157640 |
Yes |
|
Cystic Fibrosis (CF) |
219700 |
No |
|
Dystrohia Myotonica 1 |
160900 |
Yes |
|
Early Onset Primary Dystonia
(DYT1) |
128100 |
Yes |
|
Ehlers-Danlos syndrome, Type IV |
130050 |
No |
|
Factor XI
deficiency (F11) |
264900 |
No |
|
Familial Adenomatous Polyposis,
Gardner syndrome, Turcots syndrome, Hereditary
Desmoid disease (APC) |
175100, 175100, 276300, 135290 |
No |
|
Fragile X syndrome |
309550 |
Yes |
|
Fructose-1,6-Bisphosphatase
(FBP1) |
229700 |
No |
|
Gilbert disease |
143500 |
No |
|
Glutaric Acidaemia Type I (GA1) |
231670 |
No |
|
Glycogen Storage Disease Type 0
(GSD0) |
240600 |
No |
|
Glycogen Storage Disease Type Ia
(GSD1a) |
232200 |
No |
|
Glycogen Storage Disease Type Ib
(GSD1b) |
602671 |
No |
|
Glycogen Storage Disease Type II
(GSD2) |
232300 |
No |
|
Glycogen Storage Disease Type III
(GSD3) |
232400 |
No |
|
Glycogen Storage Disease Type IV
(GSD4) |
232500 & 263570 |
No |
|
Glycogen Storage Disease Type V
(GSD5) |
232600 |
No |
|
Glycogen Storage Disease Type VI
(GSD6) |
232700 |
No |
|
Glycogen Storage Disease Type VII
(GSD7) |
232800 |
No |
|
Glycogen Storage Disease Type IX
(GSD8) |
306000, 172490 & 172470 |
No |
|
GTP-cyclohydrolase I-deficient
autosomal dominant dopa-responsive dystonia
(GCH1) |
233910 |
Yes |
|
Haemochromatosis
(HFE) |
235200 |
No |
|
Haemophilia A
(F8) |
306700 |
Yes |
|
Haemophilia B
(F9) |
306900 |
Yes |
|
Hereditary Non-Polyposis
Colorectal Cancer (HNPCC) |
120435, 609310 |
No |
|
Hereditary Spastic Paraplegia 3
(SPG3A) |
182600 |
No |
|
Hereditary Spastic Paraplegia 4
(SPG4) |
182601 |
Yes |
|
Huntington Disease |
143100 |
Yes |
|
Ig and TCR clonality |
147100,186970,186930 |
No |
|
Long Chain Hydroxyl-CoA-Dehydrogenase
deficiency (LCHAD) |
609016 |
No |
|
Kearns-Sayre syndrome |
530000 |
Yes |
|
Leber Optic Atrophy |
535000 |
Yes |
|
Leigh syndrome |
256000 |
Yes |
|
MELAS |
540000 |
Yes |
|
MERRF |
545000 |
Yes |
|
NARP |
551500 |
Yes |
|
Medium Chain
Acyl-CoA-Dehydrogenase deficiency (MCAD) |
201450 |
No |
|
Methylentetrahydrofolate
Reductase deficiency (MTHFR) |
236250 |
No |
|
Minimal residual disease (MRD) in
acute lymphoblastic leukaemia (ALL) |
|
No |
|
Myeloproliferative disorders (MPD)
JAK2 |
147796 |
No |
|
Multiple Endocrine Neoplasia type
1 (MEN1) |
131100 |
No |
|
Multiple Endocrine Neoplasia type
2, familial medullary thyroid cancer (RET) |
171400, 162300, 155240 |
No |
|
Multiple Colorectal Adenomas (MYH) |
608456 |
No |
|
Osteogenesis imperfecta type I |
166200 |
No |
|
Osteogenesis imperfecta type II |
166210 |
Yes |
|
Osteogenesis imperfecta type III |
259420 |
Yes |
|
Osteogenesis imperfecta type IV |
166220 |
Yes |
|
Osteogenesis Imperfecta Autosomal
Recessive (CRTAP) |
610854, 610682 |
No |
|
Osteogenesis Imperfecta Autosomal
Recessive (LEPRE1) |
610915
|
No |
|
Protein C
deficiency (PROC) |
176860 |
No |
|
Protein S
deficiency (PROS1) |
176880 |
No |
|
Pseudoxanthoma Elasticum (PXE) |
264800 |
No |
|
SBMA (Kennedy disease) |
313200 |
Yes |
|
SMA |
253300 |
Yes |
|
Tyrosine hydroxylase-deficient
autosomal recessive dopa-responsive dystonia |
605407 |
Yes |
|
Wilms Tumour,Denys Drash
syndrome, Frasier syndrome,Mesangial Sclerosis (WT1) |
194070,194080, 256370, 256370 |
No |
|
Very Long Chain
Acyl-CoA-Dehydrogenase deficiency (VLCAD) |
201475 |
No |
|
Wilson Disease |
277900 |
No |
|
von Willebrand disease (VWF) |
193400,
#277480 |
No |
|
X-linked Adrenoleukodystrophy (X-ALD) |
300100 |
No |