Medical Genomics Laboratory

News

  • The MGL is pleased to announce that we now offer testing for Tuberous Sclerosis Complex (TSC). We provide a comprehensive panel that includes sequencing and deletion/duplication analysis for the TSC1 and TSC2 gene. Single gene sequencing and deletion/duplication analysis is also available for each of the genes within our panels, however our panel provides a cost-effective method to obtain a result for your patient without the necessity of ordering multiple tests.

 

  • In a study led and coordinated by Ludwine Messiaen, PhD, director of the UAB Medical Genomics Laboratory and Arkadiusz Piotrowski, PhD, Children’s Tumor Foundation Young Investigator Awardee, a new major gene, LZTR1, predisposing to schwannomatosis has been discovered using a sophisticated approach involving next-generation deep sequencing of evolutionary conserved sequences on chromosome 22q. The study was published in the February 2014 issue of Nature Genetics.For more information regarding the findings of this study, please Click Here.

 

  • The MGL is now offering testing for many of the rasopathy disorders. The current tests offered include a Noonan/Rasopathy panel which testes for 13 genes, including the most recently discovered RIT1 gene as well as deletion duplication studies for the SPRED1 gene. In addition, the MGL also offers a CFC panel (4 genes), and a LEOPARD panel (3 genes). The lab is also offering testing for Metachondromatosis and Costello syndrome. For more information regarding these tests, please Click Here.


Overview


The Medical Genomics Laboratory (MGL) is a CAP-certified nonprofit clinical laboratory at the University of Alabama at Birmingham, offering comprehensive testing for common and rare genetic disorders.  The MGL specializes in testing for all forms of the neurofibromatoses, including NF1, Legius syndrome (SPRED1 disorder), segmental NF, NF-Noonan, spinal NF, Watson syndrome, NF2, and schwannomatosis.


Staff

Ludwine Messiaen, Ph.D., FACMG, Director
This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, CGC, Genetic Counselor
This email address is being protected from spambots. You need JavaScript enabled to view it. , MMedSc, Diagnostic Coordinator
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This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Manager
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Contact
UAB Medical Genomics Laboratory
720 20th St. S., Suite 330
Birmingham, AL 35294
Phone: (205) 934-5562
Fax: (205) 996-2929
E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.  

Please Note: 

All specimens received by the laboratory must be labeled with 2 identifiers at the time of collection.  Examples of acceptable identifiers include but are not limited to:  patient name, date of birth, hospital number, social security number, requisition number, accession number, unique random number.

Requests for molecular genetic testing will not be accepted under the following circumstances.

  • Insufficient labelling on the specimens with at least 2 identifiers
  • No referring physician's or genetic counselor's names and addresses
  • No billing information