Laboratory Certification

Professional Staff

Reporting 

Available Tests 

Contact Information

 

The Molecular Genetics Laboratory performs testing of multiple genetic diseases, ranging in complexity from single mutation analysis in MCAD or Achondroplasia, to sequencing of the entire Fibrillin gene for Marfan syndrome testing. The laboratory offers testing for more than 40 diseases, including most common conditions, as well as many that are rare, or for which testing options are limited. Areas of special interest include Marfan syndrome direct testing, PKD2 linkage analysis, craniosynostosis syndrome testing, and various tests for hereditary hearing loss. Prenatal samples are accepted for most testing, and many tests may be performed with cheek swabs rather than blood samples.

The research interests within the Molecular Genetics Laboratory include the epidemiological and genotype:phenotype correlations of the triplet repeat expansion diseases, such as Huntington Disease; the spectrum of mutations in the FGFR and TWIST genes in relation to phenotype; and causes of hereditary hearing loss.

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 National Certification Agency as Clinical Laboratory Specialists in Molecular Genetics [CLSp(MG)]. The Laboratory Directors are certified in Molecular Genetics by the American Board of Medical Genetics.

CAP# 20502-01
CLIA # 37D0474681

PROFESSIONAL STAFF:

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

Laboratory Director (X-linked diseases): Nancy J. Carpenter, Ph.D., FACMG
Diplomate of the American Board of Medical Genetics in Clinical Cytogenetics, Clinical Molecular Genetics and Medical Genetics

REPORTING:
  • The Laboratory Director reviews and provides interpretation for all cases.
  • All written reports are sent to the referring physician, hospital laboratory &/or genetic counselor by mail &/or by FAX upon request.
  • All abnormal results are telephoned to the referring physician or genetic counselor by the Laboratory Director who is available to discuss each case as needed.
  • Preliminary verbal reports are available upon request by referring physicians or genetic counselors.