Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Jackson-Weiss Syndrome; JWS 123150
fibroblast growth factor receptor 2; FGFR2 176943
  • Clinical Genetics
  • Highly Specialised Services
Jervell And Lange-Nielsen Syndrome 1; JLNS1 220400
potassium voltage-gated channel subfamily Q member 1; KCNQ1 607542
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics
  • Histopathology
Jervell And Lange-Nielsen Syndrome 2; JLNS2 612347
potassium voltage-gated channel subfamily E regulatory subunit 1; KCNE1 176261
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics
  • Histopathology
Juvenile Polyposis Syndrome; JPS 174900
bone morphogenetic protein receptor type 1A; BMPR1A 601299
mutY DNA glycosylase; MUTYH 604933
SMAD family member 4; SMAD4 600993
  • Clinical Genetics
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome; JPHT 175050
SMAD family member 4; SMAD4 600993
  • Dermatology, Adult
  • Dermatology, Paediatric
  • Gastroenterology, Adult
  • Gastroenterology, Paediatric
  • Neurology, Adult
  • Neurology, Paediatric
  • Respiratory Medicine, Adult
  • Respiratory Medicine, Paediatric
  • Prescribed Specialised Services

Section 1B

Disorders MIM Genes MIM Specialties Commissioning
Joubert Syndrome and Meckel Syndrome 25 Gene Panel; . 0
...see test listing on database for full details 0
  • Clinical Genetics
  • Prescribed Specialised Services
Joubert Syndrome and Related Disorders 18 Gene Panel 0
...see test listing on database for full details 0
  • Clinical Genetics
Joubert Syndrome and Related Disorders 24 Gene Panel; . 0
...see test listing on database for full details 0
  • Clinical Genetics
  • Prescribed Specialised Services
Juvenile Polyposis Syndrome 2 Gene Panel; . 0
...see test listing on database for full details 0
  • Clinical Genetics
  • Oncology, Adult
  • Prescribed Specialised Services

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