Greater than 70 percent of hospitalized pediatric patients have a genetic component to their health. Clinical genomic testing is essential for the diagnosis and management of many pediatric diseases.

The Advanced Diagnostics Laboratory (ADX) at Children’s Health℠ Children’s Medical Center Dallas provides state-of-the-art clinical genomic testing. ADX’s primary mission is to improve the clinical care of patients by providing the most powerful diagnostic technologies. The technologies used in the laboratory include Sanger sequencing, next-generation (massively parallel) sequencing, and chromosomal microarray.

Over the past decade, the medical and scientific staff of the ADX Lab have made important contributions to clinical genomics which have been published in peer-reviewed journals such as Nature Biotechnology, JAMA Neurology, Clinical Chemistry, Journal of Molecular Diagnostics, Pediatric Blood and Cancer, Journal of Pediatric Gastroenterology Nutrition, American Journal of Surgical Pathology, and Archives of Pathology and Laboratory Medicine.

Genomic Tests:

• Epilepsy Sequencing Test (134 genes)
• Neuromuscular Disorders (126 genes)
• Immunodeficiency (105 genes)
• Skeletal Dysplasia (52 genes)
• Pulmonary Disease (38 genes)
• Hemophagocytic Lymphohistiocytosis (16 genes)
• Noonan Spectrum/RASopathies (14 genes)
• Dyskeratosis Congenita (10 genes)
• Periodic Fever (10 genes)
• Hereditary Pancreatitis (4 genes)
• Chromosomal microarray: Affymetrix CytoScanDx (FDA 510k)
• Oncology Fusion Sequencing (93 genes)
• Other: Helicobacter pylori Clarithromycin Resistance Testing (23S rRNA)

Related groups:

• Division of Pediatric Genetics & Metabolism
• McDermott Center for Human Growth and Development

Specific Training programs:

• Clinical Cytogenetics and Genomics Fellowship
• Molecular Genetic Pathology Fellowship

Faculty

Jason Park, M.D., Ph.D.

• Professor
• Clinical Director of Advanced Diagnostics
• Children’s Health℠
• JASON.PARK@childrens.com

Hung Luu, M.D., Pharm.D.

• Professor
• Director of Clinical Pathology
• Children’s Health℠
• HUNG.luu@childrens.com

Dinesh Rakheja, M.D.

• Professor
• Chief of Pediatric Pathology
• Fellowship Director of Pediatric Pathology
• Children’s Health℠
• Dinesh.Rakheja@UTSouthwestern.edu

Charles Timmons, M.D., Ph.D.

• Professor
• Associate Residency Program Director
• Children’s Health℠
• CHARLES.TIMMONS@childrens.com

Naseem Uddin, M.D.

• Assistant Professor
• Director of Placenta & Perinatal Pathology
• Children’s Health℠
• Naseem.Uddin@UTSouthwestern.edu

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