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

4216 total number of submissions
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neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
AD
03/12/2025
Evaluated
07/02/2025
Submitted
immunodeficiency 27A
AR
01/17/2025
Evaluated
07/02/2025
Submitted
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
AD
01/17/2025
Evaluated
07/02/2025
Submitted
autosomal dominant polycystic kidney disease
AD
02/26/2025
Evaluated
07/02/2025
Submitted
AR
01/02/2025
Evaluated
07/02/2025
Submitted
van der Woude syndrome 1
AD
01/28/2025
Evaluated
07/02/2025
Submitted
IRF6-related condition
AD
01/28/2025
Evaluated
07/02/2025
Submitted
syndromic multisystem autoimmune disease due to ITCH deficiency
AR
01/30/2025
Evaluated
07/02/2025
Submitted
Koolen-de Vries syndrome
AD
01/27/2025
Evaluated
07/02/2025
Submitted
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
AR
02/20/2025
Evaluated
07/02/2025
Submitted
premature ovarian failure 10
AR
12/30/2024
Evaluated
07/02/2025
Submitted
Waardenburg syndrome type 2A
AD
03/03/2025
Evaluated
07/02/2025
Submitted
AD
10/11/2016
Evaluated
07/02/2025
Submitted
neurodevelopmental disorder
XL
01/09/2025
Evaluated
07/02/2025
Submitted
heterotaxy, visceral, 8, autosomal
AR
02/20/2025
Evaluated
07/02/2025
Submitted
Renpenning syndrome
XL
01/08/2025
Evaluated
07/02/2025
Submitted
thrombophilia due to protein S deficiency, autosomal dominant
AD
03/04/2025
Evaluated
07/02/2025
Submitted
thrombophilia due to protein S deficiency, autosomal recessive
AR
03/04/2025
Evaluated
07/02/2025
Submitted
PRPH2-related retinopathy
AD
03/05/2025
Evaluated
07/02/2025
Submitted
autosomal recessive nonsyndromic hearing loss 84A
AR
01/23/2025
Evaluated
07/02/2025
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.