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
- Alagille Syndrome
- Alpha-1 Antitrypsin Deficiency
- Ambiguous Genitalia
- Amniotic Band Syndrome
- Androgen Insensitivity Syndrome
- Angelman Syndrome
- Asperger's Syndrome
- Barth syndrome
- Bile Acid Synthesis Defects
- Birth Defects and Congenital Anomalies
- Bone Dysplasia (Dwarfism)
- Cavernous Malformations
- CDKL5 Disorder
- Cerebral Palsy from Birth-Related Complications
- Chromosome 22q11.2 Deletion
- Congenital Anomalies of the Urinary Tract
- Congenital Growth and Development Defects
- Cornelia de Lange Syndrome
- Craniofacial Abnormalities
- Cyclic Vomiting
- Delayed Puberty/Sexual Development
- Disorders of Sexual Differentiation
- Down Syndrome
- Ehlers Danlos Syndrome
- Facioscapulohumeral (FSH) Muscular Dystrophy
- Familial Pancreatitis
- Fibro Adipose Vascular Anomaly
- Fragile X Syndrome
- Galactosemia
- Gastrointestinal Polyposis
- Genetic Diseases
- Genetic Skeletal Disorders
- Genetic/Metabolic Diseases of the Liver
- Glucose Transporter Type 1 Deficiency
- Hypocalcemia
- Inborn Errors of Metabolism
- Jeune's Syndrome
- Kabuki Syndrome
- Kallmann Syndrome
- Klinefelter Syndrome
- Kniest Dysplasia
- Li-Fraumeni Syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Metabolic Storage Diseases
- Mitochondrial Disease
- Mixed Gonadal Dysgenesis
- Morquio Syndrome
- Mosaic Down Syndrome
- Multiple Endocrine Neoplasia Type 1 and 2
- NEMO Syndrome
- Neonatal Abstinence Syndrome
- Neurogenetic–Neurometabolic Abnormalities
- Nevoid Basal Cell Carcinoma Syndrome
- Noonan Syndrome
- Parkes Weber Syndrome
- Parry Romberg Syndrome
- Peutz-Jeghers Syndrome
- Phenylketonuria
- Pompe Disease
- PTEN Hamartoma Tumor Syndrome
- Pyruvate Dehydrogenase Deficiency
- Rett Syndrome
- Reye Syndrome
- Rhabdoid Tumor Predisposition Syndrome
- Saethre-Chotzen Syndrome
- Sex Chromosome Anomalies
- Sickle Cell Disease
- Stickler Syndrome
- Sturge-Weber Syndrome (SWS)
- Thrombophilia
- Treacher Collins Syndrome
- Trisomies and Monosomies
- Trisomy 13
- Trisomy 18
- Trisomy 21
- Turner Syndrome
- Vascular Malformations
- VATER Syndrome
- Williams Syndrome
- X-Linked Agammaglobulinemia
- X-Linked Lymphoproliferative Syndrome
Genetic Testing and Screenings
- Acylcarnitine Profile
- Amino Acid Quantitation
- Amino Acid Quantitation (CSF)
- Amino Acid Quantitation (Free Homocysteine)
- Amino Acid Quantitation (Plasma)
- Arylsulfatase A
- Arylsulfatase B
- Beta Galactosidase
- Beta Glucosidase
- Beta Glucuronidase
- Beta Hexosaminidase
- Beta-Mannosidase
- Biochemical Genetic Test: Biotinidase
- Biochemical Genetic Test: Homocysteine
- Biochemical Genetic Test: Lactate
- Biochemical Genetic Test: Pyruvate
- Biochemical Genetic Test: Urine Organic Acids
- Biochemical Genetic Test: Urine Succinylacetone
- Blood Labs
- Carbohydrate Deficient Transferrin
- Carnitine - Total & Free (Plasma)
- Carnitine - Total & Free (Urine)
- Carnitine Palmitoyl Transferase
- Chromosome Studies
- Complete Blood Count
- Cystine Analysis - Urine Amino Acid Qt.
- Cytogenetic Testing: 2.7 M SNPs Chromosomal Microarray on Blood
- Cytogenetic Testing: Fluorescent In Situ Hybridization (FISH) Testing
- Cytogenetic Testing: Routine Chromosome Analysis (Karyotype)
- DNA Microarray
- Enzyme Replacement Therapy
- Epimerase
- Exome Sequencing
- Fatty Acid Oxidation
- Galactitol
- Galactokinase
- Galactose-1-Phosphate
- Galactosemia Quantitation
- Genetic Screening
- Genome Sequencing
- Hearing Loss Panel
- HLA Antibody Screening, Crossmatching and Engraftment Monitoring
- HLA Typing by Next Generation Sequencing
- I-cell Disease Test
- Lactate and Pyruvate Ratio
- Lysosomal Storage Disease Enzyme Testing
- Methylmalonic Acid (Plasma)
- Molecular Genetic Testing
- Molecular genetic testing for epilepsy
- Molecular Genetic Testing: Fragile X
- Molecular Genetic Testing: Thrombophilia Panel
- Myoinositol
- Non Esterified Free Fatty Acid (NEFFA)
- Organic Acid Quantitation
- Organic Acid Quantitation (Methylmalonic Acid)
- Organic Acid Quantitation (Succinylacetone)
- Orotic Acid
- Sanfilippo B (Lysosomal Enzyme - MPS III)
- Sphingomyelinase
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.
