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

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky. The next thing I know, our ...

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