Alliance Laboratory: GenPath Women's Health

GenPath Women’s Health, an OPKO Health company, provides innovative and cost-effective testing across obstetrics, gynecology, and maternal-fetal medicine.

GenPath offers a full menu of prenatal genetic-based tests including pan-ethnic carrier screen panels known as InheriGen, individual carrier screen tests (CF, SMA, Fragile X, Ashkenazi Jewish-associated disorders), and non-invasive prenatal testing (NIPT).

For more information on GenPath Women’s Health, please visit:

Prenatal Genetics Expertise

Prenatal genetic testing at GenPath is a result of combining elaborate research, the latest technological innovations, and genetic expertise from our prenatal genetics leadership team:

  • Sherri Bale, Ph.D., FACMG – Managing Director of GeneDx, author of ACMG Guidelines
  • Robert Daber, Ph.D. – Vice President of Genomic Operations and Development, Clinical Cytogeneticist
  • Maria Laura Cremona, Ph.D., FACMG, DABMG – Director of Reproductive Genetics, Clinical Molecular Geneticist

Prenatal Genetic Testing Methodologies


Coding and non-coding regions of 180 genes are enriched and sequenced in both directions with the Illumina sequencing technology. Single nucleotide variants (SNVs), insertions and deletions corresponding to the requested panel mutations are detected utilizing a customized bioinformatic analytical pipeline. Reported variants include only known disease-associated pathogenic variants. Confirmatory analysis is done by Sanger sequencing on a new nucleic acid extraction.

Cystic Fibrosis Expanded Panel

Expanded Cystic Fibrosis (CF) is a panel of 215 mutations reported to cause CF. This panel includes the 23 mutations recommended for carrier screening by ACOG and ACMG. The remaining mutations on the panel have been reported to CF frequently in the literature. Sequencing is performed and mutations are analyzed using a custom workflow. All positive mutations and low coverage regions are confirmed using Sanger sequencing.

Fragile X

Genomic DNA is extracted from whole blood or saliva. A proprietary primer pair is used for DNA amplification of the FMR1 gene by PCR. A separate FMR1 CGG primer is used for determining the CGG repeat profile of the amplicons, which are separated by capillary electrophoresis.

Spinal Muscular Atrophy

Amplicons from exon 7 of the SMN1 gene are amplified by real time PCR, along with an endogenous reference control and a copy number calibrator control. Copy number is derived using CopyCallerTM software (Applied Biosystems, Foster City, CA).

Non-Invasive Prenatal Testing (NIPT)

DNA that is isolated from the maternal blood, which contains fetal DNA, is amplified at 19,488 loci using a targeted PCR assay, and sequenced using a high-throughput sequencer. Sequencing data is analyzed using Natera's proprietary NATUS (Next-generation Aneuploidy Testing Using SNPs) algorithm to determine the fetal copy number for chromosomes 13, 18, 21, X, and Y, thereby identifying whole chromosome abnormalities at these locations. If ordered, the microdeletion panel will identify microdeletions at the specified loci only.