Medical Genomics Laboratory

 

 

Overview

Staff

Testing Service

Forms

Prices

Billing

Shipping

Contact

Note

 

 

 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
• Bruce R. Korf, M.D., Ph.D., FACMG
• Sheila Walton, Administrative Support Specialist
• Alicia Gomes, Genetic Counselor
• Angela Sharp, Diagnostic Coordinator
• Karen M. Janowski, Lab Manager

 

Testing Service

• NF1 - NEUROFIBROMATOSIS TYPE 1
  • Comprehensive Gene Analysis (Test 1)
  • Targeted Mutation Detection (Test 2)
  • Prenatal Detection of Known Mutation (Test 3)
  • Comprehensive Analysis in Affected Tissues (Test 4)
• NF2 - NEUROFIBROMATOSIS TYPE 2
  • Comprehensive Gene Analysis (Test 1)
  • Targeted Mutation Detection (Test 2)
  • Prenatal Detection of Known Mutation (Test 3)
  • Comprehensive Analysis in Affected Tissues (Test 4)
• SPRED1 - LEGIUS SYNDROME
  • Comprehensive Gene Analysis (Test 1)
  • Targeted Mutation Detection (Test 2)
• SMARCB1 (Alias: INI1) - 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 - PTEN HAMARTOMA TUMOR SYNDROME/ MACROCEPHALY-AUTISM SYNDROME
  • Comprehensive Gene Analysis(Test 1)
  • Targeted Mutation Detection (Test 2)
  • Prenatal Detection of Known Mutation (Test 3)
• VHL- VON HIPPEL-LINDAU SYNDROME
  • Comprehensive Gene Analysis (Test 1)
  • Targeted Mutation Detection (Test 2)
  • Prenatal Detection of Known Mutation (Test 3)
• PKHD1 - AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE(ARPKD)
  • Comprehensive Gene Analysis (Test 1)
  • Targeted Mutation Detection (Test 2)
  • Prenatal Analysis of Known Mutation (Test 3)
  • Informativity and Prenatal Linkage Analysis (Test 4-5)
• ACADM - MEDIUM CHAIN ACYL- CoA DEHYDROGENASE DEFICIENCY (MCADD)
  • Comprehensive Gene Analysis (Test 1)
  • Targeted Mutation Detection (Test 2)
• Fragile X Syndrome
• Hemochromatosis
• Factor V Leiden
• Factor II (Prothrombin)

 

 Forms

• CERTIFICATES
  • CAP Certificate
  • CLIA Certificate
• NF1 - NEUROFIBROMATOSIS TYPE 1
  • NF1 Test Requisition
  • NF1 Test Requisition-Segmental
  • Instructions for collecting and shipping biopsy specimens (CAL-spots) for NF1 Testing
  • Instructions for collecting and shipping neurofibromas for NF1 Testing
  • Instructions for buccal swab collection
  • Form for Customs
• NF2 - NEUROFIBROMATOSIS TYPE 2
  • NF2 Test Requisition
  • Form for Customs
• SPRED1 - LEGIUS SYNDROME
  • SPRED1 Test Requisition
  • Form for Customs
• SMARCB1(Alias: INI1)  - SCHWANNOMATOSIS /ATYPICAL TERATOID/RHABDOID TUMOR PREDISPOSITION SYNDROME
  • SMARCB1 Test Requisition
  • Form for Customs
• PTEN - PTEN HAMARTOMA TUMOR SYNDROME/ MACROCEPHALY-AUTISM SYNDROME
  • PTEN Test Requisition
  • Form for Customs
• VHL - VON HIPPEL-LINDAU SYNDROME
  • VHL Test Requisition
  • Form for Customs
• PKHD1 - AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE(ARPKD)
  • ARPKD Test Requisition
  • Form for Customs
• OTHER LABORATORY TESTING SERVICES
  • General Test Requisition

 

 Contact

	UAB Medical Genomics Laboratory
	720 20th Street South, Suite 330
	Birmingham, AL 35242
	Phone: 205-934-5562
	Fax: 205-996-2929
	Email: medgenomics@uab.edu

 

 

Note : Requests for Molecular Genetic testing will not be accepted for the following reasons

• No label (patient's full name and date of collection) on the specimens
• No referring physician's or genetic counselor's names and addresses
• No billing information
• No informed consent