The Department of Genetics delivers outstanding care for patients and families through integrated clinical and laboratory services, including comprehensive prenatal, pediatric, adult inpatient and outpatient genetic services (diagnosis, management and counseling), and state-of-the-art laboratory services (cytogenetics, molecular genetics, and biochemical genetics). Back to Clinical Information main page
Attention : Please note that the Medical Genomics Laboratory has updated CPT codes and prices for all tests as of November 1, 2008. For a list of the new prices and codes, please click on the prices link.
The MGL now offers copy number analysis for the PKHD1 and SPRED1 gene by MLPA and quantitative PCR.
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- Ludwine Messiaen, Ph.D., FACMG, Director
- Bruce R. Korf, M.D., Ph.D., FACMG
- Sheila Walton, Administrative Support Specialist
- Kristen West, Lab Manager
- NEUROFIBROMATOSIS TYPE 1
- NEUROFIBROMATOSIS TYPE 2
- SPRED1 - NEUROFIBROMATOSIS TYPE 1 - LIKE SYNDROME
- INI1/SMARCB1- SCHWANNOMATOSIS /ATYPICAL TERATOID/RHABDOID TUMOR PREDISPOSITION SYNDROME
- Comprehensive Gene Analysis (Test 1)
- Targeted Mutation Detection (Test 2)
- Prenatal Detection of Known Mutation (Test 3)
- Comprehensive Analysis in Affected Tissue (Test 4)
- PTEN HAMARTOMA TUMOR SYNDROME/ MACROCEPHALY-AUTISM SYNDROME – PTEN
- AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE(ARPKD)
- MEDIUM CHAIN ACYL- CoA DEHYDROGENASE DEFICIENCY (MCADD) – ACADM
- VON HIPPEL-LINDAU SYNDROME
- Fragile X Syndrome
- Hemochromatosis
- Factor V Leiden
- Factor II (Prothrombin)
- CERTIFICATES
- NEUROFIBROMATOSIS TYPE 1
- NEUROFIBROMATOSIS TYPE 2
- SPRED1 - NEUROFIBROMATOSIS TYPE 1 - LIKE SYNDROME
- INI1/SMARCB1- SCHWANNOMATOSIS /ATYPICAL TERATOID/RHABDOID TUMOR PREDISPOSITION SYNDROME
- PTEN HAMARTOMA TUMOR SYNDROME/ MACROCEPHALY-AUTISM SYNDROME – PTEN
- AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE(ARPKD)
- OTHER LABORATORY TESTING SERVICES
| UAB Medical Genomics Laboratory | |
| 720 20th Street South, Suite 330 | |
| Birmingham, AL 35242 | |
| Phone: 205-934-5562 | |
| Fax: 205-996-2929 | |
| Email: mgl@genetics.uab.edu |

