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
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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
- Schwannomatosis - INI1/SMARCBI
- Comprehensive Test (Test 1)
- Targeted Mutation Analysis (Test 2)
- Prenatal Detection of Known Mutation (Test 3)
- Comprehensive Analysis of the IN1 Gene in Tumor Tissue (Test 4)
- Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Fragile X Syndrome
- Hemochromatosis
- Factor V Leiden
- Factor II (Prothrombin)
- MCADD
- Von Hippel-Lindau Syndrome
- Certificates
- Neurofibromatosis Type I
- NF1 Laboratory Request Form
- NF1 Informed Consent for Testing
- Phenotypic Checklist - General
- Phenotypic Checklist - Biopsy Mosaic/Segmental
- Instructions for collecting and shipping bioposy specimens (CAL-spots) for NF1 Testing
- Instructions for collecting and shipping neurofibromas for NF1 Testing
- Form for Customs
- Neurofibromatosis Type 2
- Spred1 - Neurofibromatosis Type 1 - Like Syndrome
- Schwannomatosis - INI1/SMARCBI
- INI1 Laboratory Request Form
- INI1 Informed Consent for Testing
- Phenotypic Checklist
- Form for Customs
- 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 |
