Medical Genomics Lab


News

The Medical Genomics Laboratory is pleased to offer new next generation sequencing testing options for NF1/SPRED1 and other Rasopathy related conditions.
For more information, click here.
For additional testing details, click here

UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1

Click here to find a recent article regarding the ongoing research in the neurofibromatoses taking place in the Medical Genomics Laboratory. 

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The Medical Genomics Laboratory recently published a genotype-phenotype correlation identified in a large cohort of patients carrying missense mutations affecting NF1 codon 1809.
Click here for a summary of the findings and a link to article.

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 as well as the RASopathies, and tuberous sclerosis complex. 


Staff

Ludwine Messiaen, Ph.D., FACMG, Director
Alicia Gomes, MS, CGC, Genetic Counselor
Angela Sharp, MMedSc, Diagnostic Coordinator
Anne Meadows, CPC, Billing Coordinator
Erin Murphy-Baum, MS, Lab Manager
Sheila Walton, Office Associate
Latoya Conner, Office Associate 


Contact

UAB Medical Genomics Laboratory
720 20th St. S., Suite 330
Birmingham, AL 35294
Phone: 205.934.5562
Fax: 205.996.2929
E-mail: medgenomics@uabmc.edu 

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