The Medical Genetics Laboratories at Baylor
College of Medicine have been dedicated to providing the medical genetics
community with high quality comprehensive diagnostic services for over
30 years. By building on our institution’s strengths in research
and discovery, we aim to provide quality genetic testing services relevant
to twenty-first century medicine.
The Biochemical Genetics Laboratory performs
specific testing for the purpose of diagnosing and monitoring patients
with inborn errors of metabolism. The laboratory provides testing for
the quantitative determination of a broad array of analytes. In addition,
over 30 enzyme assays are available for specific disorders. Professionals
in human genetics provide reports with interpretations and telephone
consultations are available with the director and medical geneticist.
The Cytogenetics Laboratory offers comprehensive
diagnostic services including high-resolution chromosome analysis,
FISH and Chromosomal Microarray Analysis (CMA). The laboratory is leading
the field in the use of CMA in clinical diagnostics including prenatal
diagnosis. The laboratory performs FISH analysis for over 25 genetic
disorders and is active in the area of cancer cytogenetics. The laboratory
also serves as a reference source for complicated cases to other laboratories
for resolution of complex cytogenetic findings.
The DNA diagnostic laboratory provides
DNA-based testing for the molecular diagnosis, carrier testing,
and prenatal testing of hereditary disorders. Mutation detection
methods used in the laboratory include automated capillary
gel-based fluorescent sequencing and genotyping, MALDI-TOF
mass spectrometry, real-time quantitative PCR, classic PCR
and Southern techniques. The laboratory currently provides
DNA tests for over 40 genetic diseases, with continuing development
of new tests and implementation of improved testing methodologies.
Mitochondrial disorders are a group of genetically and
clinically heterogeneous multi-systemic disorders. The Mitochondrial
laboratory offers the most comprehensive molecular DNA analysis
of the common point mutations and large deletions in the mitochondrial
genome, the whole mitochondrial genome sequence analysis, and DNA sequence
analysis of nuclear genes that are involved in mitochondrial DNA biosynthesis,
respiratory chain enzyme complexes assembly, and metabolic disorders,
including urea cycle, fatty acid oxidation, creatine pathway, etc.
In addition, the laboratory recently developed the MitoMet oligonucleotide
array CGH for the detection of copy number changes in both nuclear
and mitochondrial genomes.
Biochemical, DNA, & Mitochondrial: Monday-Friday,
8 a.m. - 5 p.m. CST
Cytogenetics: Monday-Friday, 7 a.m.- 6 p.m.
CST; Saturday, 9 a.m. - 12 p.m. CST
CLIA
ID #: 45D0660090
CAP #:
21093-14
California
Florida #: L800012320
New York #: PFI-4584 Code 844052A2
New York
State Approved Test List
Maryland #: 1419
Pennsylvania #: 027174
Medicare Provider
Texas Medicaid Provider
National Provider: 1770635864
- Immediate final reports available by telephone or FAX transmission.
- Board certified medical geneticists are available to discuss abnormal
results.
- Assistance with ordering appropriate tests.
Laboratory Directors:
Sau W. Cheung, Ph.D., F.A.C.M.G., ABMG Certified Clinical Cytogeneticist
Christine M. Eng, M.D., F.A.C.M.G., ABMG Certified Clinical Molecular
Geneticist
William E. O'Brien, Ph.D.
Lee-Jun Wong, Ph.D., F.A.C.M.G., ABMG Certified Clinical Molecular Geneticist
and Biochemical Geneticist
Medical Directors:
Carlos A. Bacino, M.D., F.A.C.M.G., ABMG Certified Clinical Cytogeneticist
William J Craigen, M.D., Ph.D., F.A.C.M.G., ABMG Certified Clinical Geneticist
and Biochemical Geneticist
Christine M. Eng, M.D., F.A.C.M.G., ABMG Certified Clinical Molecular
Geneticist
V. Reid Sutton, M.D., ABMG Certified Clinical Geneticist
Associate Laboratory Directors:
Ankita Patel, Ph.D., ABMG Certified
Clinical Cytogeneticist
Assistant Laboratory Directors:
Ping Fang, Ph.D., FACMG, ABMG Certified Clinical Molecular Geneticist
Seema Lalani, ABMG Certified Clinical Cytogeneticist
Pawel Stankiewicz, M.D., Ph.D., ABMG Certified Clinical
Cytogeneticist
Joanna Wiszniewska, M.D., ABMG Certified Clinical Molecular Geneticist
Yaping Yang, Ph.D., ABMG Certified Clinical Molecular Geneticist
Shulin Zhang M.D. & Ph.D. FACMG ABMG Certified Clinical Molecular
Geneticist
Genetic Counselors:
Sandra K. G. Peacock, M.S., ABGC Certified Genetic Counselor
Amber N. Pursley, M.S., ABGC Certified Genetic Counselor
Eric S. Schmitt, Ph.D., M.S., ABGC Certified Genetic Counselor
Patricia A. Ward, M.S., ABMG Certified Genetic Counselor
Laboratory Supervisors:
M. Lance Cooper
Weihong Jin, M.S., CLSp(MB)
Drew E. Mensing
Robert Pace, M.S.
Arthur W. Warman, M.S.
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