Molecular Testing

Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat

Central Hypoventilation Syndrome: PHOX2B Polyalanine Repeat

Central Hypoventilation Syndrome: PHOX2B Sequencing

Central Hypoventilation Syndrome: PHOX2B Sequencing

Maternal Cell Contamination (MCC)

Maternal Cell Contamination (MCC)

Whole Exome Sequencing

Whole Exome Sequencing

X-Inactivation Studies

X-Inactivation Studies

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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