METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Newborn screening is critical because it ensures early detection, assists with diagnosis, and can prevent death or disability and enable children to reach their full potential (CDC). We offer newborn screening genetic tests and panels on our genetic test menu with many options to reflex to either exome or genome based on the original test ordered.
Amino Acid & Urea Cycle Disorders
Comprehensive Inheritied Metabolic and Mitochondrial Disorders
Disorders of Folate Metabolism and Transport
Endocrine Disorders
Fatty Acid Oxidation, Sterol, & Lipoprotein M
Galactosemias
Hemoglobin Disorders
Hypoglycemia
Inborn Errors of Immunity/Immunodeficiency
Lysosomal Storage Disorders
Organic Acidemias
Other Disorders
Peroxisomal Disorders
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other