The Biochemistry Laboratory analyzes amino acid and organic acid levels for the diagnosis and monitoring of patients with inborn errors of intermediary metabolism. Amino Acid Analysis & Organic Acid Analysis Amino acid analysis (blood, urine, cerebrospinal fluid) and organic acid analysis (urine) are performed using state-of-the-art methodology and instrumentation.
The Cytogenetics Laboratory studies chromosome morphology. In conjunction with the Molecular Diagnostics Laboratory, microarray testing is also offered to further evaluate the genetic constitution of children with clinical disorders. The Cytogenetics Laboratory also processes specimens for the study of hematologic and soft tissue malignancies.
In addition to the morphologic evaluation of chromosomes, the lab also performs the molecular cytogenetic technique of fluorescence in situ hybridization (FISH). FISH analysis allows for the identification of specific chromosome abnormalities that are beyond the resolution of a standard morphologic evaluation. The laboratory also serves as a cell culture facility for specimens that need specialized (non-cytogenetic) testing.
The Molecular Diagnostics Laboratory provides a broad range of diagnostic services for the study of inherited and acquired genetic disorders using a variety of techniques and technologies. These include the following:
Microarray and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis for the detection of genomic copy number variants.
Sanger sequencing and Next Generation Sequencing (NGS) panels for the detection of genomic sequence changes and small insertions/deletions.
PCR and gel electrophoresis for the sizing of trinucleotide repeat expansions, short tandem repeats (STRs) for chimerism analysis, and methylation status analysis.
Realtime-PCR for the characterization of RNA fusion transcripts and gene expressions.
Testing can be performed on purified nucleic acids (DNA and/or RNA) derived from peripheral blood, bone marrow, buccal swabs, saliva, and fresh, frozen, or paraffin-embedded tissues.