Prenatal Precise

Non-Invasive Prenatal Testing (NIPS) is a screening test used to help determine a pregnant woman’s chance to have a baby with trisomy 21(Down syndrome), trisomy 18, or trisomy 13. If desired, it can also provide information about the likely sex of the baby. NIPT should be offered to all pregnant women

Prader-Willi Syndrome Methylation

This test determines the level of methylation at CpG sites within the Angelman syndrome/Prader-Willi syndrome critical region on chromosome 15 via pyrosequencing.

Spinocerebellar Ataxia Expansion Panel

This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of spinocerebellar ataxia, and it is performed by trinucleotide repeat expansion analysis.

Expanded 93 mtDNA Variant Panel

This targeted panel of 93 mitochondrial DNA variants includes 29 known pathogenic variants with an additional 64 variants which will be considered for interpretation in the analysis.

Below is a list of 93 variants which are considered in the analysis. The variant “m.7445A>G” is located at the boundary of two genes, MT-CO1 and MT-TS1, and is commonly considered as two variants.

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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