New Service Development


February 2017

 

Microarray testing for patients with ambiguous genitalia/disorders of sexual development

From February 2017, the laboratory will offer microarray testing for patients with ambiguous genitalia/disorder of sexual development if requested by the referring clinician.  Rapid (SRY) FISH and/or karyotyping will continue to be performed in all cases as the first line test. We will indicate on the karyotype report if we are willing to perform microarray testing based on the referral details provided and will indicate if a further sample is required for DNA extraction. The referring clinician should then contact the laboratory if microarray testing is required.

 

 

 

October 2016

 

NIPT service suspension

Great Ormond Street Hospital (GOSH) will stop offering Non-Invasive Prenatal Testing (NIPT) for aneuploidy when our research finishes at the end of October. Samples will not be accepted after Friday 28th October 2016 due to a lack of funding and while we await further information on implementation of NIPT into the maternity care pathway.

 

 

NIPD

Non-invasive prenatal testing is now available for fetal sexing, cystic fibrosis, FGFR3-related skeletal conditions, FGFR2-related craniosynostosis (including Apert syndrome) and as a bespoke test for family-specific mutations.  Please see our NIPD information sheet for more details.

 

 

February 2016

 

The UK Genetic Testing Network (UKGTN) has approved the following Gene Dossier submissions from the NE Thames Regional Genetics Service:

 

Tubulopathies 37 gene panel

 

 

December 2015

 

The UK Genetic Testing Network (UKGTN) has approved the following Gene Dossier submissions from the NE Thames Regional Genetics Service:

 

Congenital adrenal hyperplasia - using cell free fetal DNA (cffDNA) for non-invasive prenatal diagnosis (NIPD)

 

Crouzon syndrome with acanthosis nigricans - using cell free fetal DNA (cffDNA) for non-invasive prenatal diagnosis (NIPD)

 

FGFR2-Related Craniosynostosis - using cell free fetal DNA (cffDNA) for non-invasive prenatal diagnosis (NIPD) for 28 FGFR2 mutations

 

Early Infantile Epileptic Encephalopathy (EIEE) 66 gene panel

 

Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

 

Alstrom Syndrome


Orofacialdigital Syndrome 6 Gene Panel


Skeletal Ciliopathies 23 Gene Panel


Joubert Syndrome and Senior-Loken Syndrome 24 gene panel


Visceral Heterotaxy 9 gene panel

 

Meckel Syndrome 9 gene panel


Polycystic kidney disease, Nephronophthisis and related disorders 22 Gene Panel

 

Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome (RGMC) 31 Gene Panel

 

Bardet-Biedl Syndrome 20 Gene Panel

 

 

 

 

 

March 2015

 

The North East Thames Regional Genetics Laboratory, based at Great Ormond Street Hospital, has launched its own non-invasive prenatal testing (NIPT) service to screen for Down's syndrome.

 

 

December 2014

 

The UK Genetic Testing Network (UKGTN) has approved the following Gene Dossier submissions from the NE Thames Regional Genetics Service:

 

Very Early Onset Inflammatory Bowel Disease 40 gene panel

 

Syndromic and non-syndromic Hearing Loss 95 gene panel

 

Early Infantile Epileptic Encephalopathy (EIEE) 45 gene panel

 

Bardet-Biedl Syndrome 13 gene panel

 

Primary Immunodeficiencies 72 gene panel

 

Rhabdoid Tumor Predisposition Syndrome 1 (OMIM 609322; 601607)

SMARCB1 gene: encodes a subunit of the SWI/SNF ATP-dependent chromatin-remodeling complex.

 

Non-invasive Prenatal Testing (NIPD) CFTR panel

Targeted next generation sequencing (NGS) for 11 mutations in CFTR

 

Non-invasive Prenatal Testing (NIPD) Apert syndrome panel

Targeted next generation sequencing (NGS) for 3 mutations in FGFR2

 

November 2013

 

The UK Genetic Testing Network (UKGTN) has approved the following Gene Dossier submissions from the NE Thames Regional Genetics Service:

 

Nicolaides Baraitser Syndrome (OMIM 601358)

SMARCA2 gene: SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily A, Member 2

 

IL10-related infantile inflammatory bowel disease (OMIM 613148; 612567)

IL10: interleukin 10

IL10RA: interleukin 10 receptor alpha

IL10RB: interleukin 10 receptor beta

  

Non-invasive Prenatal Testing (NIPT) FGFR3 panel

29 recurrent FGFR3 mutations tested using cell-free fetal DNA

 

 

© 2011 Great Ormond Street Hospital for Children NHS Trust