Ambry Genetics

GenCC Ref: GENCC:000101

Ambry Genetics

This page is a summary of 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

3169 total number of submissions
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neurooculorenal syndrome
Submitted as: OMIM:620305
AR
07/31/2023
Evaluated
01/02/2024
Submitted
myopathy, tubular aggregate, 1
Submitted as: OMIM:160565
AD
10/03/2023
Evaluated
01/02/2024
Submitted
dyskeratosis congenita, autosomal dominant 2
Submitted as: OMIM:613989
AR
10/04/2023
Evaluated
01/02/2024
Submitted
intellectual developmental disorder, autosomal dominant 72
Submitted as: OMIM:620439
AD
07/25/2023
Evaluated
01/02/2024
Submitted
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Submitted as: OMIM:618986
AD
07/17/2023
Evaluated
01/02/2024
Submitted
cranioectodermal dysplasia 2
Submitted as: OMIM:613610
AR
10/19/2023
Evaluated
01/02/2024
Submitted
X-linked osteoporosis with fractures
Submitted as: OMIM:300910
XL
10/19/2023
Evaluated
01/02/2024
Submitted
Wieacker-Wolff syndrome, female-restricted
Submitted as: OMIM:301041
XL
10/18/2023
Evaluated
01/02/2024
Submitted
familial juvenile hyperuricemic nephropathy type 2
Submitted as: OMIM:613092
AD
12/15/2022
Evaluated
08/19/2023
Submitted
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Submitted as: OMIM:601399
AD
12/14/2022
Evaluated
08/19/2023
Submitted
ataxia-pancytopenia syndrome
Submitted as: OMIM:159550
AD
12/12/2022
Evaluated
08/19/2023
Submitted
dilated cardiomyopathy 1E
Submitted as: OMIM:601154
AD
11/09/2021
Evaluated
08/19/2023
Submitted
systemic primary carnitine deficiency disease
Submitted as: OMIM:212140
AR
05/12/2023
Evaluated
08/19/2023
Submitted
pulmonary alveolar microlithiasis
Submitted as: OMIM:265100
AR
05/11/2023
Evaluated
08/19/2023
Submitted
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Submitted as: OMIM:609218
AR
03/30/2023
Evaluated
08/19/2023
Submitted
lysinuric protein intolerance
Submitted as: OMIM:222700
AR
12/07/2021
Evaluated
08/19/2023
Submitted
hypertrophic osteoarthropathy, primary, autosomal dominant
Submitted as: OMIM:167100
AD
04/19/2023
Evaluated
08/19/2023
Submitted
developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Submitted as: OMIM:619595
AD
05/11/2022
Evaluated
08/19/2023
Submitted
combined immunodeficiency due to STK4 deficiency
Submitted as: OMIM:614868
AR
05/17/2023
Evaluated
08/19/2023
Submitted
transcobalamin II deficiency
Submitted as: OMIM:275350
AR
05/27/2022
Evaluated
08/19/2023
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.