Conditions We Treat

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

Cavernous Malformations

Cerebral Palsy from Birth-Related Complications

Chromosome 22q11.2 Deletion

Cloaca Anomaly


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



Facioscapulohumeral [FSH] Muscular Dystrophy

Familial Pancreatitis

Fibro Adipose Vascular Anomaly

Fragile X Syndrome


Gastrointestinal Polyposis

Genetic Diseases

Genetic Skeletal Disorders

Genetic/Metabolic Diseases of the Liver

Glucose Transporter Type 1 Deficiency


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

Multiple Endocrine Neoplasia Type 2

Neonatal Abstinence Syndrome

Neurogenetic–Neurometabolic Abnormalities

Neurogenetic–Neurometabolic Abnormalities

Nevoid Basal Cell Carcinoma Syndrome

Noonan Syndrome

Parkes Weber Syndrome

Parry Romberg Syndrome

Peutz-Jeghers Syndrome


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)


Treacher Collins

Trisomies and Monosomies

Trisomy 21

Turner Syndrome

Vascular Malformations

VATER Syndrome

Williams Syndrome

X-Linked Agammaglobulinemia

X-Linked Lymphoproliferative Syndrome

Genetic Testing - Dr. Parul - Nicklaus Children's Hospital
Meet Dr. Parul Jayakar Director of the Neuro-Genetic and Metabolic Program and the Miami Genetic Laboratories.

Service Locations

Nicklaus Children's Hospital Main Campus
3100 SW 62nd Avenue
Miami, FL 33155