Ambry Genetics

GenCC Ref: GENCC:000101

Ambry Genetics

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

Ambry genetics is a CLIA-certified fee-for-service clinical testing laboratory.


Website
Personnel
Kelly Radtke, Coordinator
Phone: 949-900-5500
Email: ambrydata@ambrygen.com

Assertion Criteria

Submissions

1790 total number of submissions
Filters:

Loading...
peroxisome biogenesis disorder 1A (Zellweger)
Submitted as: OMIM:214100
AR
07/10/2017
Evaluated
03/02/2021
Submitted
rhizomelic chondrodysplasia punctata type 1
Submitted as: OMIM:215100
AR
08/30/2018
Evaluated
03/02/2021
Submitted
glycogen storage disease VII
Submitted as: OMIM:232800
AR
08/31/2018
Evaluated
03/02/2021
Submitted
developmental delay, intellectual disability, obesity, and dysmorphic features
Submitted as: OMIM:617991
AD
01/29/2018
Evaluated
03/02/2021
Submitted
glycogen storage disease IXa
Submitted as: OMIM:306000
XL
08/31/2018
Evaluated
03/02/2021
Submitted
neurodegeneration with brain iron accumulation 2A
Submitted as: OMIM:256600
AR
07/12/2018
Evaluated
03/02/2021
Submitted
neurodegeneration with brain iron accumulation 2B
Submitted as: OMIM:610217
AR
08/21/2017
Evaluated
03/02/2021
Submitted
Pelizaeus-Merzbacher disease
Submitted as: OMIM:312080
XL
03/05/2018
Evaluated
03/02/2021
Submitted
Charcot-Marie-Tooth disease type 1A
Submitted as: OMIM:118220
AD
08/30/2018
Evaluated
03/02/2021
Submitted
hereditary neuropathy with liability to pressure palsies
Submitted as: OMIM:162500
AD
08/31/2018
Evaluated
03/02/2021
Submitted
mitochondrial DNA depletion syndrome 4a
Submitted as: OMIM:203700
AR
08/14/2017
Evaluated
03/02/2021
Submitted
sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Submitted as: OMIM:607459
AR
02/27/2018
Evaluated
03/02/2021
Submitted
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Submitted as: OMIM:157640
AD
02/27/2018
Evaluated
03/02/2021
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Submitted as: OMIM:236670
AR
02/09/2018
Evaluated
03/02/2021
Submitted
focal dermal hypoplasia
Submitted as: OMIM:305600
XL
08/31/2018
Evaluated
03/02/2021
Submitted
Carney complex, type 1
Submitted as: OMIM:160980
AD
01/04/2018
Evaluated
03/02/2021
Submitted
spinocerebellar ataxia type 14
Submitted as: OMIM:605361
AD
08/31/2018
Evaluated
03/02/2021
Submitted
polycystic liver disease 1
Submitted as: OMIM:174050
AD
04/03/2018
Evaluated
03/02/2021
Submitted
Gerstmann-Straussler-Scheinker syndrome
Submitted as: OMIM:137440
AD
03/22/2018
Evaluated
03/02/2021
Submitted
hypogonadotropic hypogonadism 3 with or without anosmia
Submitted as: OMIM:244200
AD
01/08/2018
Evaluated
03/02/2021
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.