Clinical Laboratory - Medical Genomics (Department of Genetics at UAB)

Department of Genetics

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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

[Overview]	[Staff]	[Testing Service]	[Forms]	[Prices]	[Billing]	[Shipping]	[Contact]	[Note]
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Attention: Please see important holiday schedule below.

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.

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; NF1-like syndrome), 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
Kristen West, Lab Manager

Testing Service

NEUROFIBROMATOSIS TYPE 1
NEUROFIBROMATOSIS TYPE 2
SPRED1 - NEUROFIBROMATOSIS TYPE 1 - LIKE SYNDROME
- Comprehensive Gene Analysis (Test 1)
- Targeted Mutation Detection (Test 2)
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
- Comprehensive Gene Analysis (Test 1)
- Targeted Mutation Detection (Test 2)
VON HIPPEL-LINDAU SYNDROME
Fragile X Syndrome
Hemochromatosis
Factor V Leiden
Factor II (Prothrombin)

Forms

CERTIFICATES
- CAP Certificate
- CLIA Certificate
NEUROFIBROMATOSIS TYPE 1
NEUROFIBROMATOSIS TYPE 2
- NF2 Test Requisition
- Form for Customs
SPRED1 - NEUROFIBROMATOSIS TYPE 1 - LIKE SYNDROME
- NF1 - Like Syndrome Test Requisition
- Form for Customs
INI1/SMARCB1- SCHWANNOMATOSIS /ATYPICAL TERATOID/RHABDOID TUMOR PREDISPOSITION SYNDROME
- INI1 Test Requisition
- Form for Customs
PTEN HAMARTOMA TUMOR SYNDROME/ MACROCEPHALY-AUTISM SYNDROME – PTEN
- PTEN Test Requisition
- Form for Customs
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: mgl@genetics.uab.edu

Holiday schedule 2009:

The Medical Genomics Laboratory will be closed on Thursday, November 26^th, and Friday November 27^th, 2009 in observance of Thanksgiving. The laboratory will still accept samples Friday, November 27^th and Saturday, November 28^th 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 Friday, November 27^thplease call the lab at 205-934-5562 by Wednesday, November 25^th to receive special shipping instructions prior to shipping your package. If you are interested in shipping samples to the Medical Genomics Laboratory for delivery on Saturday, November 28^th, please page the lab at 205-934-4011 pager # 4049 for special shipping instructions.

Please note that the Medical Genomics Laboratory will be closed on Friday, December 25^th and Friday, January 1^stin observance of Christmas and New Year’s. We will not be accepting samples on Saturday December 26^th and January 2^nd.

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