Pediatric Genetics Laboratory Services

At Children's Health℠, we provide state-of-the-art clinical laboratory genetic testing performed in our Advanced Diagnostics Laboratory (ADX).

Advanced Diagnostic Laboratory or ADX, has provided technical expertise and contract services for commercial in-vitro diagnostic manufacturers, pharmaceutical companies and researchers.

Clinical genetic testing at Children’s began in support of clinical rare disease programs.

ADX is the only clinical provider in the United States for several genetic tests. Since its beginnings in rare diseases, ADX has expanded to provide routine genetic testing for metabolic and neurologic diseases.

Currently, ADX is developing the next generation of clinical genetic tests which will include the DNA sequencing of panels of 100s to 1000s of genes.

Genetics Tests

  • 16s Ribosomal Ribonucleic Acid (RNA) Bacterial Identification

  • 23S Ribosomal Ribonucleic Acid (RNA) Bacterial Mutation

  • Beta-globin Sequencing, Beta-thalassemia

  • Cyclin-Dependent Kinase-like 5 / Atypical Rett Syndrome

  • Glutaryl - CoA Dehydrogenase / Glutaric Acidemia Type I

  • Methyl CpG Binding Protein / Rett syndrome

  • Single Target Mutation Analysis [Requires prior approval - Contact Lab]

  • Solute Carrier Family 2 (Facilitates Glucose Transporter), Member 1 / Glut-1 Deficiency

  • Surfactant Protein A1

  • Surfactant Protein A2

  • Surfactant Protein C

  • Telomerase - Reverse Transcriptase

  • Telomerase RNA Component

  • Ubiquitin Protein Ligase E3A / Angelman Syndrome