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

3747 total number of submissions
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tuberous sclerosis 2
Submitted as: OMIM:613254
AD
05/16/2024
Evaluated
01/17/2025
Submitted
UROD-related inherited porphyria
SD
07/15/2024
Evaluated
01/17/2025
Submitted
TH-deficient dopa-responsive dystonia
Submitted as: OMIM:605407
AR
07/08/2024
Evaluated
01/17/2025
Submitted
oocyte maturation defect 6
AR
11/20/2024
Evaluated
01/17/2025
Submitted
inherited retinal dystrophy
AR
12/09/2024
Evaluated
01/17/2025
Submitted
complex neurodevelopmental disorder
AD
03/05/2024
Evaluated
01/17/2025
Submitted
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Submitted as: OMIM:620494
AD
05/22/2024
Evaluated
01/17/2025
Submitted
complex neurodevelopmental disorder
AD
04/23/2024
Evaluated
01/17/2025
Submitted
congenital heart defects, multiple types, 2
Submitted as: OMIM:614980
AD
02/26/2024
Evaluated
01/17/2025
Submitted
gelatinous drop-like corneal dystrophy
Submitted as: OMIM:204870
AR
09/03/2024
Evaluated
01/17/2025
Submitted
autosomal recessive nonsyndromic hearing loss 7
Submitted as: OMIM:600974
AR
03/07/2024
Evaluated
01/17/2025
Submitted
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Submitted as: OMIM:618986
AD
07/17/2023
Evaluated
01/02/2024
Submitted
neurooculorenal syndrome
Submitted as: OMIM:620305
AR
07/31/2023
Evaluated
01/02/2024
Submitted
intellectual developmental disorder, autosomal dominant 72
Submitted as: OMIM:620439
AD
07/25/2023
Evaluated
01/02/2024
Submitted
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
cranioectodermal dysplasia 2
Submitted as: OMIM:613610
AR
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
CHEK2-related cancer predisposition
AD
05/14/2018
Evaluated
01/17/2025
Submitted
palmoplantar keratoderma, punctate type 1A
Submitted as: OMIM:148600
AD
05/29/2024
Evaluated
01/17/2025
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.