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

369 total number of submissions
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intellectual disability, X-linked syndromic, Turner type
Submitted as: OMIM:309590
XL
11/04/2020
Evaluated
10/27/2022
Submitted
Silver-Russell syndrome 3
AD
05/17/2021
Evaluated
10/27/2022
Submitted
pancytopenia due to IKZF1 mutations
AD
10/25/2021
Evaluated
10/27/2022
Submitted
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
AD
08/26/2021
Evaluated
10/27/2022
Submitted
lissencephaly 6 with microcephaly
AR
09/13/2021
Evaluated
10/27/2022
Submitted
amyotrophic lateral sclerosis, susceptibility to, 25
AD
12/01/2021
Evaluated
10/27/2022
Submitted
AR
04/29/2021
Evaluated
10/27/2022
Submitted
occipital pachygyria and polymicrogyria
Submitted as: OMIM:614115
AR
07/16/2021
Evaluated
10/27/2022
Submitted
tooth agenesis
Submitted as: OMIM:616724
AD
09/23/2021
Evaluated
10/27/2022
Submitted
Schaaf-Yang syndrome
AD
03/31/2021
Evaluated
10/27/2022
Submitted
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Submitted as: OMIM:600987
AD
01/12/2021
Evaluated
10/27/2022
Submitted
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Submitted as: OMIM:616638
AD
03/17/2021
Evaluated
10/27/2022
Submitted
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
AR
06/02/2022
Evaluated
10/27/2022
Submitted
Charcot-Marie-Tooth disease type 4D
AR
12/12/2019
Evaluated
10/27/2022
Submitted
chromosome 1p32-p31 deletion syndrome
Submitted as: OMIM:613735
AD
07/02/2021
Evaluated
10/27/2022
Submitted
Borjeson-Forssman-Lehmann syndrome
Submitted as: OMIM:301900
XL
08/06/2021
Evaluated
10/27/2022
Submitted
arthrogryposis, distal, with impaired proprioception and touch
Submitted as: OMIM:617146
AR
07/28/2020
Evaluated
10/27/2022
Submitted
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
AD
10/21/2020
Evaluated
10/27/2022
Submitted
odontoleukodystrophy
Submitted as: OMIM:607694
AR
08/03/2021
Evaluated
10/27/2022
Submitted
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
AR
01/19/2021
Evaluated
10/27/2022
Submitted

The GenCC data are 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 accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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.