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Heterozygous mutation in exon 9 of the FGFR2 gene (C342Y). This mutation is associated with autosomal dominant craniosynostosis (Crouzon and Pfeiffer syndromes). |
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Molecular Genetic Pathology at Stanford
The Stanford Molecular Genetic Pathology Service provides a full range of diagnostic services for inherited genetic disorders, hematolymphoid malignancies, solid tumors, and genetic risk factors. We are committed to:
- Provide the highest quality patient care
- Serve as competent and easily available consultants to our referring physicians
- Advance translational and clinical research
- Train future community based and academic pathologists, molecular genetic pathologists and clinical molecular geneticists.
The Stanford Molecular Pathology Laboratory performs analyses on the nucleic acids (DNA or RNA) in submitted samples. Testing includes: diagnostic assays and carrier screening assays for inherited genetic disorders, as well as prenatal diagnostics. In addition, the laboratory performs assays for thrombophilia risk factors, solid tumors, and for acquired hematolymphoid disorders such as leukemias and lymphomas. Such disorders can also be followed over time, and after therapeutic intervention, to monitor the presence of minimal residual disease or recurrence of a malignancy. Depending on the assay, molecular diagnosis can be performed on blood, bone marrow, body fluids, and fresh, frozen, or paraffin embedded tissues.
Affiliated services
