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:

Constitutional Cytogenetics Testing Menu

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: Cystic Fibrosis Screening and Diagnostic Sequencing
Hematologic Conditions Targeted Gene Testing: Factor V Leiden Analysis

Prothrombin Analysis

Thrombosis Panel

Hereditary Hemochromatosis
Additional Molecular Genetic Testing Offered: Fragile X Syndrome Analysis

Y Deletion Testing

Zygosity Testing

Please also visit our Forms and Instructions page for more details on how to order testing.