Molecular Genetics

The Molecular Genetics Laboratory performs testing of multiple genetic diseases, ranging in complexity from single mutation analysis in Achondroplasia to sequencing of the entire Fibrillin gene for Marfan syndrome testing. The laboratory offers testing for more than 50 diseases, including common genetic conditions, as well as many rare disorders, for which testing options are limited. Areas of special interest include Marfan syndrome testing, PKD and PKD2 linkage analysis, craniosynostosis syndrome testing, Chrohn's Disease and various tests for hereditary hearing loss. Prenatal samples are accepted for most testing.

Current research and development efforts emphasize next generation sequencing panels for disease pathways and cancer genetics.

For available tests, view the Test Directory.

Laboratory Certification

The laboratory is accredited by the College of American Pathologists (CAP)and certified by the Department of Health & Human Services Clinical Laboratory Improvement Amendments (CLIA). The laboratory technical staff members are certified by the American Society of Clinical Pathology (CASCP) as Clinical Laboratory Specialists in Molecular Genetics ASCP (MB). The Laboratory Directors are certified in Molecular Genetics by the American Board of Medical Genetics.

CAP# 20502-01
CLIA # 37D0474681
CA State License # C0500800312


Professional Staff

Molecular Genetics Laboratory Director: Frederick V. Schaefer, Ph.D., FACMG
Diplomate of the American Board of Medical Genetics in Clinical Molecular Genetics.

Reporting

  • A laboratory director reviews and provides interpretation for all cases.
  • All written reports are sent to the referring physician, hospital laboratory and/or genetic counselor by mail and/or by FAX upon request.
  • Preliminary verbal reports are available upon request by referring physicians or genetic counselors.