Medical Genetics Laboratories

DNA Diagnostic Laboratory

Please visit our web site at: Medical Genetics Laboratories

About The Laboratories:

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^SM Mitochondrial/Metabolic oligonucleotide array CGH analysis for the detection of copy number changes in both nuclear and mitochondrial genomes.

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Contact Information:

Tel: 1-800-411-GENE
Fax: 713-798-2787
e-mail:

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