Medical Genomics Laboratory
- 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.
Please Note: Please note that the Medical Genomics Laboratory will be closed on Thursday, December 25th and Friday, December 26th as well as Thursday January 1st and Friday, January 2nd in observance of Christmas and New Year’s. We will be accepting samples on Saturday, December 27th and Saturday,January 2nd. The laboratory will still accept samples on these Saturdays (12/27/2014 and 01/03/2015) but only if special arrangements have been made with the laboratory. If you are interested in shipping samples to the Medical Genomics Laboratory for delivery on Saturday, please page the lab at 205-934-4011 pager # 4049 for special shipping instructions.
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.
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
UAB Medical Genomics Laboratory
720 20th St. S., Suite 330
Birmingham, AL 35294
Phone: (205) 934-5562
Fax: (205) 996-2929
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