Miami Genetic Laboratories
Nicklaus Children's Hospital, formerly Miami Children's Hospital's Miami Genetic Laboratories is a CAP-accredited referral laboratory, providing comprehensive molecular, biochemical and cytogenetic testing and consultative services under the leadership of a board-certified medical geneticist, cytogeneticist and biochemical geneticist.
The team at our genetic testing laboratories provides high-quality, state-of-the-art diagnostic testing with results provided in the shortest time possible, without compromising quality or diagnostic accuracy. STAT services are offered for urgent cases.
The medical team offers counseling related to patient care, based on lab results.
Cytogenetic testing is offered through conventional and molecular cytogenetic testing with reliable accuracy, quality, and turnaround time for constitutional disorders and cancers, including leukemias and solid tumors.
Available cytogenetic tests include:
- Routine chromosome analysis (karyotype) for congenital and neoplastic disorders on blood and bone marrow specimens
- FISH (Fluorescence In Situ Hybridization) for hematologic disorders, bone marrow transplant and tumor associated gene rearrangements in FEPE (Formaldehyde Fixed Paraffin Embedded) tissue, including HER2.
- 2.7 M SNPs chromosomal microarray on blood
Molecular Genetic Testing
Molecular genetic testing is available for children requiring testing related to cystic fibrosis, fragile X and autism panel testing.
Available molecular genetic tests include:
- Fragile X
- Luminex 60 mutation panel for cystic fibrosis
- Next generation sequencing for: Autism panel, Febrile seizure panel, cystic fibrosis.
- MTHFR (C665T) genotyping
- Leukemia panel (ALL, CML, AML and APL)
- NPM1 testing for non-Hodgkin lymphoma, APL, AML
- Coming in 2016: Epilepsy panel, thrombophilia panel, CYP2D6 pharmacogenomics
Biochemical Genetic Testing
Biochemical genetic testing is available to support newborn screening, and diagnosis and ongoing treatment of metabolic disorders
Available biochemical genetic tests include:
- Plasma amino acids
- Urine organic acids
- CSF amino acids
- Carnitine plasma and urine
- Urine Succnylacetone
- Coming in 2016: Plasma carnitine