Human Genome Program, U.S. Department of Energy, Genomics and Its Impact on Science and Society: A 2008 Primer, 2008. (Original version 1992, revised 2001 and 2008.) (website) 840 Memorial Drive, Suite 101, Cambridge, MA 02139
Phone: 617-492-7083. Fax: 617-492-7092. Appointments: 617-492-5106
Jeff Milunsky, M.D., F.A.C.M.G.
Co-Director, Center for Human Genetics, Inc.
Director, Clinical Genetics
Senior Director, Molecular Genetics
jmilunsky@chginc.org
Aubrey Milunsky, M.D., D.Sc.,
F.R.C.P., F.A.C.M.G., D.C.H.
Founder and Co-Director,
Center for Human Genetics, Inc.
amilunsky@chginc.org

Our offices and laboratories are located on the Charles River in Cambridge, Massachusetts, right outside of Boston!  (See our brochure)


NEW! 25-HYDROXYVITAMIN D TESTING

The Center for Human Genetics, Inc., is now offering 25(OH) vitamin D testing.  Vitamin D deficiency is estimated to affect over a billion people worldwide, commonly due to the lack of exposure to sunlight and/or consuming unfortified foods and can lead to osteoporosis.

GENETIC ALERTS

NOW AVAILABLE:  CONNECTIVE TISSUE DISORDERS DNA SEQUENCING CHIP

The non-profit Center for Human Genetics, Inc. is pleased to announce the availability of our DNA sequencing chip (CONNECT1) that simultaneously analyzes 22 genes for connective tissue disorders.  MLPA assays are also available for those genes that have known deletions reported as pathogenic variants.

Significant clinical overlap exists between many of these disorders, making it even more cost-effective to use this NEXT GENERATION SEQUENCING PLATFORM. All discovered pathogenic variants will be confirmed by Sanger sequencing. Uniform coverage exceeds 30X, with supplemental Sanger sequencing improving overall coverage to >99% of targeted regions.

CONNECT1 is the optimal cost-effective first line test for those with a suspected dominant undiagnosed hereditary connective tissue disorder or those with a dominant family history of aneurysms.                           

NOW AVAILABLE:  AUTISM-AUTISM SPECTRUM DISORDER NEXT GENERATION SEQUENCING IS NOW AVAILABLE!

      • Simultaneous analysis of 53 genes causally associated with Autism/Autism Spectrum Disorder with or without Intellectual Disability or Epilepsy
      • Pathogenic or likely pathogenic variants have been found in all these genes
      • Pathogenic variants found on next generation sequencing will be confirmed by Sanger sequencing at no additional cost
      • Pathogenic variant detection approximates 95%
      • Results in 4-6 weeks

MISSION

The non-profit Center for Human Genetics, Inc. has been a pioneer in the provision of genetic diagnostic tests, clinical diagnosis, prenatal diagnosis, and genetic counseling services, as well as education programs for over 30 years. Known worldwide for our clinical and laboratory diagnostic and counseling and evaluation services, we are privileged to serve physicians, institutions, and patients from 45 countries, and every state in the U.S.

Against a background of successful training programs and research in gene discovery and the use of new technologies, our quality, caring, and responsive services are widely acknowledged. Our center remains dedicated to the care of all who need evaluation for a genetic diagnosis, genetic counseling, prenatal diagnosis, carrier detection, or predictive tests.


CONFERENCE INFORMATION

Conference Program (PDF) (MS Word)

Conference Registration