Laboratory for Molecular Medicine

GenCC Ref: GENCC:000107

Laboratory for Molecular Medicine

This page is a summary of pilot submissions provided by Laboratory for Molecular Medicine. Click here to be notified about GenCC updates.

The Laboratory for Molecular Medicine (LMM) is a CLIA-certified molecular diagnostic laboratory, operated by Partners HealthCare Personalized Medicine. The LMM is led by a group of Harvard Medical School-affiliated faculty, geneticists, clinicians, and researchers from Brigham and Women’s Hospital and Massachusetts General Hospital, Partners' founding members. Our mission is to bridge the gap between research and clinical medicine.


Website
Personnel
Christina Austin-Tse, Coordinator
Phone: 617-768-8500
Email: caustint@broadinstitute.org

Assertion Criteria

Submissions

261 total number of submissions
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ornithine carbamoyltransferase deficiency
Submitted as: OMIM:311250
XL
04/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autosomal recessive nonsyndromic deafness 22
Submitted as: OMIM:607039
AR
04/22/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autosomal recessive nonsyndromic deafness 18B
Submitted as: OMIM:614945
AR
04/14/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autosomal recessive nonsyndromic deafness 84B
Submitted as: OMIM:614944
AR
06/25/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
propionic acidemia
Submitted as: OMIM:606054
AR
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autosomal recessive nonsyndromic deafness 23
Submitted as: OMIM:609533
AR
06/23/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
retinitis pigmentosa 40
Submitted as: OMIM:613801
AR
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
adult Refsum disease
Submitted as: OMIM:266500
AR
05/16/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
polycystic kidney disease 1
Submitted as: OMIM:173900
AD
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
polycystic kidney disease 4
Submitted as: OMIM:263200
AR
05/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
pyruvate kinase deficiency of red cells
Submitted as: OMIM:266200
AR
05/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
Charcot-Marie-Tooth disease type 1A
Submitted as: OMIM:118220
AD
06/25/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
ataxia - oculomotor apraxia type 4
Submitted as: OMIM:616267
AR
06/24/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autosomal recessive juvenile Parkinson disease 2
Submitted as: OMIM:600116
AR
06/23/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
hyperprolinemia type 1
Submitted as: OMIM:239500
AR
04/20/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
autism, susceptibility to, X-linked 4
Submitted as: OMIM:300830
XL
05/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
thrombocytopenia-absent radius syndrome
Submitted as: OMIM:274000
AR
05/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
Diamond-Blackfan anemia 3
Submitted as: OMIM:610629
AD
05/28/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
arrhythmogenic right ventricular dysplasia 2
Submitted as: OMIM:600996
AD
04/14/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
Charlevoix-Saguenay spastic ataxia
Submitted as: OMIM:270550
AR
04/22/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

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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.