Disease

OMIM

UKGTN service*

Achondroplasia (FGFR3)

#100800, *134934

 YES

Albright's Hereditary Osteodystrophy (GNAS)

#103580, +139320

 YES

Aminoglycoside induced deafness (MTRNR1)

#580000, *561000

Angelman syndrome

#105830

Apert syndrome (FGFR2)

#101200, *176943

NSCAG

Autoimmune Lymphoproliferative syndrome (TNFRSF6)

#601859, *134637

NSCAG

Autosomal recessive Osteopetrosis (TCIRG1)

#259700, *604592

YES

Branchio-oto-renal syndrome (EYA1)

#113650, *601653

YES

Carbamoylphosphate synthetase I deficiency (CPS1)

#237200, *608307

YES

Cell-free fetal DNA sex determination

(YES)

Connexin 26 (GJB2)

#220290, *121011

YES

Crouzon syndrome (FGFR2 / FGFR3)

#123500, *176943, *134934

NSCAG

Cystic Fibrosis (CFTR)

#219700, *602421

Cystinosis (CTNS)

#219800, #219750, #219900, *606272

YES

Fabry disease (GLA)

+301500

YES

Familial Hemophagocytic Lymphohistiocytosis (PRF1)

#603553, *170280

 NSCAG

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

Hereditary Surfactant Protein B deficiency (SFTPB)

#265120, *178640

YES

Hypertrophic Cardiomyopathy (MYBPC3 / MYH7 / TNNT2 / TNNI3)

#192600, *600958, *160760, *191045, +191044

YES

Hypochondroplasia (FGFR3)

#146000, *134934

YES

Interleukin 7 receptor severe combined immunodeficiency (IL7R)

#600802, *146661

YES

JAK3-severe combined immune deficiency (JAK3)

#600802, *600173

NSCAG

Juvenile Nephronophthisis (NPHP1)

#256100, *607100

YES

Long Chain deficiency of Acyl-CoA Dehydrogenase (HADHA)

#609016, *600890

YES

Medium Chain deficiency of Acyl-CoA Dehydrogenase (ACADM)

#201450, *607008

YES

Metachromatic Leucodystrophy (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

NSCAG

Nephrotic syndrome (NPHS2)

#600995, *604766

YES

Neuronal ceroid-lipofuscinosis type 1 (infantile Batten) (PPT1)

#256730, *600722

YES

Neuronal ceroid-lipofuscinosis type 2 (late-inafantile Batten) (CLN2)

#204500, *607998

YES

Neuronal ceroid-lipofuscinosis type 3 (juvenile Batten) (CLN3)

#204200, *607042

YES

Neuronal ceroid-lipofuscinosis type 6 (variant late-infantile Batten) (CLN6)

#601780, *606725

YES

Ornithine Transcarbamylase  deficiency (OTC)

#311250, *300461

YES

Pendred syndrome (SLC26A4)

#274600, *605646

YES

Pfeiffer syndrome (FGFR1 / FGFR2)

#101600, *136350, *176943

NSCAG

Popliteal Pterygium Syndrome (IRF6)

#119500, *607199

YES

Prader Willi Syndrome

#176270

Pseudohypoparathyroidism (GNAS)

+139320

YES

Pseudo-pseudohypoparathyroidism (GNAS)

+139320

YES

RAG-severe combined immune deficiency (RAG1 / RAG2)

#601457, *179615, *179616

 NSCAG

Saethre-Chotzen syndrome (TWIST)

#101400, *601622

 NSCAG

Thanatophoric Dysplasia (FGFR3)

 #187600, *134934

 YES

Van der Woude syndrome (IRF6)

#119300, *607199

YES

Wiskott-Aldrich syndrome (WAS)

#301000, *300392

NSCAG

X-Inactivation studies

YES

X-linked agammaglobulinaemia (BTK)

#307200, +300300

YES

X-linked Hyper IgM syndrome (CD40LG)

#308230, *300386

NSCAG

X-linked lymphoproliferative disease (SAP)

#308240, *300490

NSCAG

X-linked Severe Combined Immune Deficiency (IL2RG)

#300400, *308380

NSCAG

 Osteopetrosis (TCIRG1)

 #259700, *604592

 YES