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 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

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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

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 JUST PUBLISHED!

The World’s Reference Text on Prenatal Genetic Diagnosis

 

HENRY STEWART TALKS

ONLINE LECTURES BY LEADING WORLD EXPERTS

AUBREY MILUNSKY MD, D.Sc

Milunsky, A. (2019, November 28). Avoidable Deaths and Harm Due to Medical Negligence [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 4, 2019, from HSTalks

 

RECENTLY PUBLISHED!
 
Avoidable Deaths and Harm due to medical Negligence
 
Poignant stories of families harmed by medical negligence and the lessons learned about avoidance and prevention of tragedies.

 

 GENETIC ALERTS

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 3-4week turnaround time.

In addition to connective tissue disorders (CONNECT2 , 47 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 CONNECT2 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! 

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 (CONNECT2) that simultaneously analyzes 47 genes for connective tissue disorders and aneurysm genes. 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.

CONNECT2 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.

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

      GENETIC ALERT! 

      ≥7000 rare genetic disorders are known

      1 in 12 are carriers of a genetic disorder

      4331 genes are known thus far that cause recognizable phenotypes         

      6739 phenotypes, some due to the same gene are diagnosable

      ≥2000 congenital syndromes are known

      CARRIER tests are available for over a 1000 genetic disorders

      PRECISE DNA DIAGNOSIS AVAILABLE FOR

      Neurological,     Cardiovascular,     Neoplastic,

      and many other genetic disorders, including for

      PRENATAL or PRE-IMPLANTATION GENETIC DIAGNOSIS.

      REFER TO

      Aubrey Milunsky MD, D.Sc. & Jeff Milunsky MD

    • AVAILABLE!

      For:  Chronic Intestinal Pseudo-obstruction
               Visceral Myopathy
               Megacystis-Microcolon-Hypoperistalsis syndrome
      DNA:  Sequencing of the ACTG2 and MYH11 GENES
      Result:  2 weeks
      Insurance:  Most should cover

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


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 40 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.