|
Disease |
OMIM |
UKGTN service
(Approved, Pending, N/A) |
|
Achondroplasia (FGFR3) |
#100800
*134934 |
YES |
|
Albright's Hereditary Osteodystrophy (GNAS1) |
#103580
+139320 |
YES |
|
Aminoglycoside induced deafness (MTRNR1 – m.1555A>G) |
#580000
*561000 |
|
|
Angelman syndrome |
#105830 |
|
|
Apert syndrome (FGFR2) |
#101200
*176943 |
NCG |
|
Athabaskan-type severe combined immune deficiency (SCID with
sensitivity to ionizing radiation) (DCLREC1C) |
#602450
*605988 |
NCG |
|
Autoimmune lymphoproliferative syndrome (TNFRSF6) |
#601859
*134637 |
NCG |
|
Autosomal recessive Osteopetrosis (TCIRG1) |
#259700
*604592 |
YES |
|
Beckwith-Wiedemann Syndrome |
#130650 |
|
|
Branchio-oto-renal syndrome (EYA1, SIX1, SIX5) |
#133650
*601653 |
YES |
|
Carbamoylphosphate synthetase I deficiency (CPS1) |
#237200
*608307 |
YES |
|
Cartilage-Hair Hypoplasia (RMRP) |
#250250
*157660 |
|
|
Cell-free fetal DNA sex determination |
|
Pending |
|
Connexin 26 (GJB2) |
#220290
*121011 |
YES |
|
Crouzon syndrome
(FGFR2/FGFR3) |
#123500
*176943
*134934 |
NCG |
|
Cystic Fibrosis (CFTR) |
#219700
*602421 |
|
|
Cystinosis (CTNS) |
#219800
#219750
#219900
*606272 |
YES |
|
Fabry Disease (GLA) |
+301500 |
YES |
|
Familial
Hemophagocytic Lymphohistiocystosis (PRF1) |
#603553
*170280 |
NCG |
|
Familial
Hypercholesterolaemia (LDLR & APOB) |
#143890
#144010
*606945
+107730 |
YES |
|
Fragile X
syndrome (FMR1) |
+309550 |
|
|
Gaucher disease (GBA) |
#230800
#230900
#231000
*606463 |
YES |
|
Glycogen storage
disease 1a (G6PC) |
+232200 |
YES |
|
Glycogen storage
disease type 2/Pompe disease (GAA) |
#232300
*606800 |
YES |
|
Hypertrophic
Cardiomyopathy (MYBPC3, MYH7, TNNT2, TNNI3) |
#192600
*600958
*160760
*191045
+191044 |
YES |
|
Hypochondroplasia
(FGFR3) |
#146000
*134934 |
YES |
|
Interleukin 7
receptor severe combined immune deficiency
(IL7R) |
#600802
*146661 |
YES |
|
JAK3 severe
combined immune deficiency (JAK3) |
#600802
*600173 |
NCG |
|
Juvenile
Nephronophthisis (NPHP1) |
#256100
*607100 |
YES |
|
Krabbe disease
(GALC) |
#245200
*606890 |
YES |
|
Loeys
Dietz Syndrome
(TGFBR1, TGFBR2) |
#610380
190181,
190182 |
|
|
Long Chain
deficiency of Acyl-CoA dehydrogenase (HADHA) |
#609016
*600890 |
YES |
|
McCune Albright
Syndrome
(GNAS1) |
#174800 |
YES |
|
Medium Chain
deficiency of Acyl-CoA dehydrogenase (ACADM) |
#201450
*607008 |
YES |
|
Metachromatic
Leukodystrophy (ARSA) |
#250100
*607574 |
YES |
|
Mucopolysaccharidosis
type 1 (Hurler/Scheie) (IDUA) |
#607014
#607015
#607016
*252800 |
YES |
|
Mucopolysaccharidosis
type 2
(Hunter) (IDS) |
+309900 |
YES |
|
Mucopolysaccharidosis
type 3A (Sanfilippo type A) (SGSH) |
#252900
*605270 |
YES |
|
Mucopolysaccharidosis type 3B (Sanfilippo type
B) (NAGLU) |
#252920
*609701 |
YES |
|
Muenke syndrome
(FGFR3) |
#602849
*134934 |
NCG |
|
Myosin
Myopathies
(MYH7) |
#608358
#160500 |
|
|
Neuronal ceroid-lipofuscinosis type 1
(infantile Batten) (CLN1, PPT1) |
#256730
*600722 |
YES |
|
Neuronal
ceroid-lipofuscinosis type 2 (late-infantile
Batten) (TPP1, CLN2) |
#204500
*607998 |
YES |
|
Neuronal
ceroid-lipofuscinosis type 3 (juvenile Batten)
(CLN3) |
#204200
*607042 |
YES |
|
Neuronal
ceroid-lipofuscinosis type 5 (variant
late-infantile Batten) (CLN5) |
#256731
*608102 |
YES |
|
Neuronal
ceroid-lipofuscinosis type 6 (variant
late-infantile Batten) (CLN6) |
#601780
*606725 |
YES |
|
Neuronal
ceroid-lipofuscinosis type 8 (variant
late-infantile Batten) (CLN8) |
#600143
*607837 |
YES |
|
Ornithine
Transcarbamylase deficiency (OTC) |
#311250
*300461 |
YES |
|
Pendred syndrome
(SLC26A4, KCNJ10,
FOXI1) |
#274600
|
YES (SLC26A4) |
|
Pfeiffer syndrome
(FGFR1/FGFR2) |
#101600
*136350
*176943 |
NCG |
|
Popliteal
Pterygium Syndrome (IRF6) |
#119500
*607199 |
YES |
|
Prader Willi
Syndrome |
#176270 |
|
|
Pseudohypoparathyroidism (GNAS1) |
+139320 |
YES |
|
Pseudo-pseudohypoparathyroidism (GNAS1) |
+139320 |
YES |
|
Pulmonary
Surfactant Metabolism Dysfunction type 1 (SFTPB) |
#265120 |
YES |
|
Pulmonary
Surfactant Metabolism Dysfunction type 2 (SFTPC) |
#610913
*178620 |
YES |
|
Pulmonary
Surfactant Metabolism Dysfunction type 3 (ABCA3) |
#610921
*601615
|
YES |
|
RAG-severe
combined immune deficiency (RAG1/RAG2) |
#601457
*179615
*179616 |
NCG |
|
Saethre-Chotzen
syndrome (TWIST) |
#101400
*601622 |
NCG |
|
Silver Russell
Syndrome |
#180860 |
|
|
Steroid resistant
nephrotic syndrome (NPHS2) |
#600995
*604766 |
YES |
|
Thanatophoric
dysplasia (FGFR3) |
#187600
*134934 |
YES |
|
Van der Woude
syndrome (IRF6) |
#119300
*607199 |
YES |
|
Waardenburg
Syndrome Type 1
(PAX3) |
#193500
*606597 |
|
|
Wiskott-Aldrich
syndrome (WAS) |
#301000
*300392 |
NCG |
|
X-inactivation
studies |
|
YES |
|
X-linked
agammaglobulinaemia (BTK) |
#307200
+300300 |
YES |
|
X-linked Hyper
IgM syndrome (CD40LG) |
#308230
*300386 |
NCG |
|
X-linked
lymphoproliferative disease (XLP1) (SH2D1A) |
#308240
*300490 |
NCG |
|
X-linked
lymphoproliferative disease (XLP2) (XIAP) |
#602450
*300079 |
NCG |
|
X-linked Severe
Combined Immune Deficiency (IL2RG) |
#300400
*308380 |
NCG |