Genetic Information Sheets

•  Angelman Syndrome (Dyscerne Guideline)
• Down Syndrome
•  Kabuki Syndrome (Dyscerne Guideline)
• Neurofibromatosis Type 1
•  Noonan Syndrome (Dyscerne Guideline)
• Prader-Willi Syndrome
• Turner Syndrome
•  Williams Syndrome (Dyscerne Guideline)

• Genetic Information Non-discrimination Act (GINA)

• Testing for Factor V Lieden and Prothrombin
• ScoliScore Genetic Test

Familial Cancer

• Hereditary Breast and Ovarian Cancer
• Lynch Syndrome Mismatch Repair Gene Mutations

Tumor Markers

• BRAF Mutation Analysis in Metastatic Colorectal Cancer
• EGFR Genomic Testing in Non-Small Cell Lung Cancer
• HER2 Testing for Gastroesophageal Cancer
• Immunohistochemistry Testing for Lynch Syndrome
• KRAS Mutation Analysis in Colorectal Cancer
• Mutation Analysis for PTEN in Breast and Colorectal Cancer
• National Cancer Institute: Tumor Markers Q&A

• Abacavir (Ziagen)
• Carbamazepine (Tegretol)
• Clopidogrel (Plavix)
• CYP2D6 Genotyping, Tamoxifen and Breast Cancer
• Nevirapine (Viramune)

Newborn Screening

• Newborn Screening ACT Sheets and Confirmatory Algorithms
• State of Utah Newborn Screening Guidelines

Chromosomal Analysis

• Chromosomal Analysis in Prenatal Patients
• For Evaluation of Developmental Delay/Mental Retardation (DD/MR), Multipule Congenital Anomalies (MCA), and Autism Spectrum Disorders (ASD)