Molecular Genetics Tests


List of services available at this laboratory

 

Mi Seq

 

 

 


 

 Core services Additional Information
Angelman syndrome

Information sheet

Breast/Ovarian cancer

Information sheet

Colorectal cancer and polyposis Information sheet
Cystic Fibrosis Information sheet
Cystic Fibrosis new-born screening Information sheet
Duchenne/Becker muscular dystrophy          Information sheet
Familial Hypercholesterolaemia Information sheet
Fragile X syndrome Information sheet
Inherited cancer

Information sheet

m.1555A>G

Information sheet

Myotonic dystrophy

Information sheet

Prader-Willi syndrome

Information sheet

RNA service

Information sheet

Spinal muscular atrophy (SMA)

Information sheet

X-inactivation

Information sheet

Prenatal tests (molecular)

 

Cell free fetal sex determination

Information sheet

NIPD Information sheet

Prenatal exomes (R21) - see further information below

Information sheet

Specialist services 

 

Childhood Neurology

Information sheet

Ophthalmology (eyes)

Information sheet

Genetic Epilepsy syndromes

Information sheet

Hearing Loss

Information sheet

R67 proforma

Immunology

Information sheet

Metabolic

Information sheet

Musculoskeletal                                         

Information sheet

Renal

Information sheet

Dermatology (skin) Information sheet
   

The North Thames GLH is a designated provider for the specialist tests listed above.  For specialties that are routed outside North Thames samples should be referred to GOSH as the home GLH who will arrange export as appropriate for the test requested.

 


 

 R21 Rapid prenatal exome sequencing

 

R21 Guidance document                                           

R21 Guidance Document_v3         

 

R21 Request form R21 Rapid Exome Sequencing Request form v1.4
R21 Frequently Asked Questions R21 Rapid Prenatal Exome Sequencing FAQs_v1
R21 Information Leaflet R21 Rapid Prenatal Exome Sequencing Information Leaflet_v5
R21 Poster R21 Rapid Prenatal Exome Sequencing Poster_v1
R21 Record of Discussion  R21 Record of Discussion_v3
   

 

 

© 2011 Great Ormond Street Hospital for Children NHS Trust