Clinical Genetics
Certain pediatric health conditions have a root cause in genetics.
Our clinical geneticists and genetic counselors at Nicklaus Children's Hospital evaluate children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies and failure to thrive.
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The Division of Clinical Genetics at Nicklaus Children's Hospital, provides expert diagnosis, counseling, and treatment for a wide range of genetic disorders in children. A clinical geneticist and genetic counselor evaluate infants and children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies, and failure to thrive.
These are some of the reasons for which children are referred for evaluation by clinical geneticists. Prenatal patients are also seen for genetic counseling in advance of a planned pregnancy as well as for potential genetic problems in an ongoing pregnancy.
Comprehensive Programs and Services
The genetic and metabolic multidisciplinary care team includes geneticists, neurologists, hematologist/oncologists, neuropsychiatrists, cardiologists and other specialists who collaborate to offer comprehensive care for children with specific disorders.
Conditions we Diagnose
- Anomalía vascular fibroadiposa
- Anomalías congénitas del tracto urinario
- Anomalías neurogenéticas-neurometabólicas
- Defectos congénitos del crecimiento y del desarrollo
- Defectos de nacimiento y anomalías congénitas
- Deficiencia de piruvato deshidrogenasa
- Deficiencia del transportador de glucosa tipo 1
- Deformidades craneofaciales
- Deleción del cromosoma 22q11.2
- Disgenesia gonadal mixta
- Displasia ósea (enanismo)
- Distrofia muscular FSH (facioescapulohumeral)
- Enfermedad de células falciformes
- Enfermedad de Pompe
- Enfermedad mitocondrial
- Enfermedades genéticas
- Enfermedades por almacenamiento metabólico
- Errores congénitos del metabolismo
- Fenilcetonuria
- Galactosemia
- Genitales ambiguos
- Hipocalcemia
- Malformaciones vasculares
- Neoplasia endocrina múltiple tipo 1 y 2
- Parálisis cerebral provocada por complicaciones en el parto
- Retraso en la pubertad/desarrollo sexual
- Síndrome de abstinencia neonatal
- Síndrome de Asperger
- Síndrome de Barth
- Síndrome de Down
- Síndrome de insensibilidad a los andrógenos
- Síndrome de Li-Fraumeni
- Síndrome de Marfan
- Síndrome de Morquio
- Síndrome de NEMO
- Síndrome de predisposición a tumores rabdoides
- Síndrome de Sturge-Weber (SWS)
- Síndrome de Turner
- Síndrome de VATER
- Síndrome de Williams
- Síndrome del cromosoma X frágil
- Síndrome Treacher Collins
- Trastorno de CDKL5
- Trastornos de la diferenciación sexual
- Trisomía 13
- Trisomía 18
- Trisomía 21
- Trisomías y monosomías
- Trombofilia
- Vómitos cíclicos
Genetic Testing and Screenings
- Ácido metilmalónico (plasma)
- Análisis de cistina - cantidad de aminoácidos en la orina
- Cuantificación de ácidos orgánicos (ácido metilmalónico)
- Esfingomielinasa
- Hemograma completo
- Mioinositol
- NEFFA (ácidos grasos libres no esterificados)
- Prueba de la enfermedad de células I
- Pruebas citogenéticas: 2.7 M SNP Microarray cromosómico en sangre
- Pruebas citogenéticas: Análisis de cromosomas de rutina (cariotipo)
- Pruebas citogenéticas: Prueba de hibridación in situ con fluorescencia (FISH)
- Pruebas de laboratorio
- Pruebas Genéticas Moleculares de Epilepsia
- Relación lactato/piruvato
Genetic Counseling Programs
Patients with a variety of genetic conditions are seen by a board-certified genetic counselor and clinical geneticist for counseling. Genetic counseling programs involve gathering detailed information regarding medical and family history, assessing risk for offspring and family members, discussing the origin and natural history of the issue, and describing genetic testing options.
Indications for referral include family history of a genetic condition, previous pregnancy with an abnormality/genetic condition, recurrent pregnancy loss, teratogen exposure, increased risk for genetic condition based on ethnicity, advanced maternal age, abnormal prenatal testing (screening or diagnostic), and ultrasound anomalies.
