Illumina

GenCC Ref: GENCC:000105

Illumina

This page is a summary of pilot submissions provided by Illumina. Click here to be notified about GenCC updates.

The Illumina Clinical Services Laboratory is a CLIA-certified, CAP-accredited clinical laboratory which offers the TruGenome Undiagnosed Disease Test, a clinical whole-genome sequencing test for patients with a suspected rare and undiagnosed genetic disease. The lab also supports clinical programs such as the iHope Program, a philanthropic program which donates clinical genome sequencing tests to help find answers for children facing these types of diseases.


Website
Personnel
Alison Coffey, Coordinator
Phone: +44 777 3631222
Email: acoffey@illumina.com

Assertion Criteria

Submissions

163 total number of submissions
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AD
03/08/2019
Evaluated
10/15/2020
Submitted
hyperinsulinemic hypoglycemia, familial, 1
AD
03/29/2019
Evaluated
10/15/2020
Submitted
Norman-Roberts syndrome
AR
02/21/2019
Evaluated
10/15/2020
Submitted
Malan overgrowth syndrome
AD
03/11/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The NFIX gene is located on chromosome 19 at 19p13.13 and encodes the nuclear factor IX protein, a t... Read more
Marshall-Smith syndrome
AD
03/11/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The NFIX gene is located on chromosome 19 at 19p13.13 and encodes the nuclear factor IX protein, a t... Read more
AD
08/29/2018
Evaluated
10/15/2020
Submitted
cleft lip with or without cleft palate
AD
06/12/2018
Evaluated
10/15/2020
Submitted
Coffin-Siris syndrome
AD
09/13/2017
Evaluated
10/15/2020
Submitted
mucopolysaccharidosis type 6
AR
03/13/2018
Evaluated
10/15/2020
Submitted
Bohring-Opitz syndrome
AD
05/22/2018
Evaluated
10/15/2020
Submitted
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
AD
02/23/2018
Evaluated
10/15/2020
Submitted
leukoencephalopathy with vanishing white matter
AR
06/17/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The EIF2B2 gene is located on chromosome 14 at 14q24.3 and encodes eukaryotic translation initiation... Read more
autosomal dominant hypocalcemia 1
AD
08/28/2018
Evaluated
10/15/2020
Submitted
XL
06/27/2017
Evaluated
10/15/2020
Submitted
congenital myasthenic syndrome
AR
01/19/2018
Evaluated
10/15/2020
Submitted
cortical dysplasia-focal epilepsy syndrome
AR
02/06/2018
Evaluated
10/15/2020
Submitted
Stickler syndrome type 1
AD
12/07/2017
Evaluated
10/15/2020
Submitted
pseudoachondroplasia
AD
03/06/2017
Evaluated
10/15/2020
Submitted
coenzyme Q10 deficiency
AR
09/21/2018
Evaluated
10/15/2020
Submitted
Rubinstein-Taybi syndrome
AD
02/09/2018
Evaluated
10/15/2020
Submitted

The GenCC database is currently released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community. You can freely download and search the data, and we encourage the use and publications of validity data for specific targeted sets of genes. However, we ask that you not publish global (site-wide) analyses of these data, or of large gene sets, until after the GenCC flagship paper has been published (estimated to be spring 2021). After the flagship publication, data will be available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.