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
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

Schedule me soon with a senior clinical geneticist (1)

Genetic Disorders and the Fetus – Diagnosis, Prevention, and Treatment, 7th Edition by Aubrey Milunsky and Jeff M. Milunsky Order online or by mail.

 GENETIC ALERTS

NEWLY AVAILABLE!

For:  Chronic Intestinal Pseudo-obstruction
         Visceral Myopathy
         Megacystis-Microcolon-Hypoperistalsis syndrome
DNA:  Sequencing of the ACTG2 GENE
Result:  2 weeks
Insurance:  Most should cover

Please click here to access our requisition form to order any testing.

NEW!  EXPANDED NEXT GENERATION SEQUENCING TEST LIST

The Center for Human Genetics is pleased to announce our newly expanded Next Generation Sequencing (NGS) DNA test list.  This high-throughput method is cost-effective and has a 2-3 week turnaround time.

In addition to connective tissue disorders (CONNECT1, 22 genes) and autism spectrum disorders (ASD, 53 genes) – see below for more information – NGS is now available at the Center for Human Genetics for:

  1. Noonan Syndrome
  2. Neurofibromatosis and Legius Syndrome
  3. Tuberous Sclerosis
  4. Kabuki Syndrome
  5. Pancreatitis
  6. Waardenburg Syndrome
  7. Cardiofaciocutaneous Syndrome
  8. Pendred Syndrome
  9. Costello Syndrome
  10. Cystic Fibrosis
  11. Expanded Ashkenazi Jewish Carrier Screening Panel

All discovered pathogenic variants will be confirmed by Sanger sequencing at no additional cost. Uniform coverage exceeds 30X, with supplemental Sanger sequencing improving overall coverage to >99% of targeted regions for CONNECT1 and approximately 95% for autism spectrum disorders analyses.

MLPA assays are also available for those genes that have known deletions reported as pathogenic variants.

Click here for more information!

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

      • 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

CaboSanLucasHilton_poolmast

33rd ANNUAL CONFERENCE 

OBSTETRICS, GYNECOLOGY, PERINATAL MEDICINE, NEONATOLOGY, AND THE LAW

JANUARY 2-6, 2017

 and

 17th ANNUAL MULTISPECIALTY CONFERENCE MEDICAL NEGLIGENCE AND RISK MANAGEMENT IN MEDICINE, SURGERY, EMERGENCY MEDICINE, RADIOLOGY, AND FAMILY MEDICINE

JANUARY 6-8, 2017

 At the spectacular Hilton Los Cabos Beach & Golf Resort

Two conferences sharing one day in-common. Select one or come to both (the second at a reduced rate). The reviews of the 32nd and 16th Annual Conferences were again outstanding, continuing the tradition of this highly successful joint series.

View our 2017 Conference Program

Register

Hotel reservations can be made by calling Travel Planners at  1-800-531-7201 or online at www.travelplannerstexas.com/chg2017.