Genomic & Molecular Pathology
Constitutional Testing: Cytogenetics and Molecular Genetics
Analysis of chromosomal abnormalities is available prenatally for amniotic fluid, chorionic villi, and products of conception, and postnatally for peripheral blood or tissue samples. Testing techniques offered by the laboratory include:
- Karyotyping
- Chromosome Analysis – Amniotic Fluid
- Fluorescence in situ hybridization
- AneuVysion
- Chromosomal SNP Microarray
A full constitutional cytogenetics testing menu can be found here:
Molecular Genetics Testing
Testing is also available for many single-gene disorders using techniques such as Sanger Sequencing, PCR, and Next Generation Sequencing (NGS).
To browse the lab’s complete offerings, please see our full Molecular Genetics Testing Menu.
Details of selected tests are also available below:
- CFTR/Cystic Fibrosis
- Old Order Amish Targeted Gene Testing
- Hematologic Conditions Targeted Gene Testing
- Additional Molecular Genetic Testing Offered
Please also visit our Forms and Instructions page for more details on how to order testing.