The Tandem Mass Spectrometry Unit tests specimens for a variety of metabolic disorders.

Tandem mass spectrometry technology tests dried blood spots for certain metabolites. These metabolites get produced when the body breaks down sugars, proteins and fats.

The technology identifies babies at risk for:

• Disorders, including:
  • Lysosomal storage
  • Amino acid, organic acid or fatty acid oxidation
• Metabolic conditions, including:
  • Phenylketonuria (PKU)
  • Maple syrup urine disease (MSUD)
  • Mucopolysaccharidosis type I (MPS I)

The NBS Molecular Unit uses a technology called real-time PCR to test newborns' DNA. The technology tests for increased risk of:

• Severe Combined Immunodeficiency (SCID)
• Spinal Muscular Atrophy (SMA)

SCID weakens the immune system. This means infections that are minor to most people can be life-threatening.

SMA is a disorder that affects cells in the nervous system and can impact a baby’s ability to crawl, walk or breathe.

We also test for cystic fibrosis using next-generation sequencing. This technique detects changes in the gene that can cause cystic fibrosis. Cystic fibrosis, an inherited condition, causes the body to produce too much mucous. 

The Fluoroimmunoassay (FIA) Unit screens newborn specimens for several endocrine and metabolic disorders.

We test dried blood spots using proteins that give off light. This light is measurable by our instruments. FIA tests check levels of hormones and special proteins that change food into energy.

This technology detects conditions such as:

• Galactosemia, or GALT deficiency, a metabolic condition.
• Congenital Adrenal Hyperplasia, an endocrine condition.

The absence of an enzyme that breaks down the sugar galactose causes classic galactosemia. This leads to toxic levels in the blood.

Congenital Adrenal Hyperplasia is a collection of inherited disorders that affect the adrenal glands. Babies with Congenital Adrenal Hyperplasia can't produce cortisol. Cortisol protects the body from stress or illness and regulates sugars in the blood.

The Hemoglobinopathies Unit tests for conditions like Sickle Cell Disease.

We use high-performance liquid chromatography and isoelectric focusing gel electrophoresis.

Hemoglobin is a protein that carries oxygen throughout the body on red blood cells. These lab tests can identify the shape of this important protein.

Hemoglobinopathies are inherited conditions that:

• Impact the hemoglobin protein
• Affect the number or shape of the red blood cells in the body
• Prevent red blood cells from carrying oxygen normally