Invitae

GenCC Ref: GENCC:000106

Invitae

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

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


Website
Personnel
Jacke Tahiliani, Coordinator
Phone: 800-436-3037
Email: jackie.tahiliani@invitae.com

Assertion Criteria

Submissions

1476 total number of submissions
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metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Submitted as: OMIM:618416
AR
06/25/2020
Evaluated
05/25/2021
Submitted
Imagawa-Matsumoto syndrome
Submitted as: OMIM:618786
AD
04/06/2020
Evaluated
05/25/2021
Submitted
intellectual disability, autosomal dominant 47
Submitted as: OMIM:617635
AD
02/12/2018
Evaluated
05/25/2021
Submitted
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Submitted as: OMIM:264600
AR
11/20/2020
Evaluated
05/25/2021
Submitted
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Submitted as: OMIM:617519
AR
06/18/2018
Evaluated
05/25/2021
Submitted
hereditary spherocytosis type 2
Submitted as: OMIM:616649
AD
04/23/2021
Evaluated
05/25/2021
Submitted
mast syndrome
Submitted as: OMIM:248900
AR
04/02/2021
Evaluated
05/25/2021
Submitted
intellectual developmental disorder, X-linked 108
Submitted as: OMIM:301024
XL
06/24/2020
Evaluated
05/25/2021
Submitted
neurodegeneration, infantile-onset, biotin-responsive
Submitted as: OMIM:618973
AR
12/12/2019
Evaluated
05/25/2021
Submitted
metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Submitted as: OMIM:616878
AR
06/24/2020
Evaluated
05/25/2021
Submitted
calvarial doughnut lesions-bone fragility syndrome
Submitted as: OMIM:126550
AD
08/02/2019
Evaluated
05/25/2021
Submitted
alpha 1-antitrypsin deficiency
Submitted as: OMIM:613490
AR
05/26/2020
Evaluated
05/25/2021
Submitted
bilateral generalized polymicrogyria
Submitted as: OMIM:614833
AR
06/12/2020
Evaluated
05/25/2021
Submitted
nonsyndromic congenital nail disorder 4
Submitted as: OMIM:206800
AR
11/09/2020
Evaluated
05/25/2021
Submitted
epidermodysplasia verruciformis, susceptibility to, 4
Submitted as: OMIM:618307
AR
05/19/2020
Evaluated
05/25/2021
Submitted
developmental and epileptic encephalopathy, 64
Submitted as: OMIM:618004
AD
11/11/2020
Evaluated
05/25/2021
Submitted
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Submitted as: OMIM:616975
AD
05/06/2020
Evaluated
05/25/2021
Submitted
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Submitted as: OMIM:615541
AR
12/21/2019
Evaluated
05/25/2021
Submitted
neurodevelopmental disorder with impaired speech and hyperkinetic movements
Submitted as: OMIM:618425
AR
02/22/2021
Evaluated
05/25/2021
Submitted
intellectual disability, autosomal dominant 22
Submitted as: OMIM:612337
AD
09/27/2019
Evaluated
05/25/2021
Submitted

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