Nicklaus Children's Hospital 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.
Genetic Tests
- Biochemical Genetic Testing
- Cytogenetic Testing
- Molecular Genetic Testing
Treatments and Procedures
Biochemical Genetic Testing
Biochemical genetic testing is available to support newborn screening, and diagnosis and ongoing treatment of metabolic disorders. Available tests include:
- Acylcarnitine
- Biotinidase
- Carnitine plasma and urine
- CSF amino acids
- Homocysteine
- Lactate
- Plasma amino acids
- Plasma Carnitine
- Pyruvate
- Urine organic acids
- Urine Succnylacetone
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Cytogenetic Testing
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 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.
- 2.7 M SNPs chromosomal microarray on blood
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Molecular Genetic Testing
Molecular genetic testing is available for children requiring testing related to cystic fibrosis, fragile X and autism panel testing. Available tests include:
- Fragile X
- MTHFR (C665T) genotyping
- Sanger
Next generation sequencing for:
- Autism Panel sequence analysis
- Creatine Biosynthesis Panel sequence analysis
- Cystic Fibrosis sequence analysis
- Epilepsy Panel sequence analysis
- Febrile Seizure Panel sequence analysis
- Lipofuscinosis Panel sequence analysis
- Neurofibromatosis (NF) Panel sequence analysis
- Rett Panel sequence analysis
- Tuberous Sclerosis Complex (TSC) Panel sequence analysis
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