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|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
|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.
The World’s Reference Text on Prenatal Genetic Diagnosis
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:
- Noonan Syndrome
- Neurofibromatosis and Legius Syndrome
- Tuberous Sclerosis
- Kabuki Syndrome
- Waardenburg Syndrome
- Cardiofaciocutaneous Syndrome
- Pendred Syndrome
- Costello Syndrome
- Cystic Fibrosis
- 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.
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.
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
≥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.
Aubrey Milunsky MD, D.Sc. & Jeff Milunsky MD
For: Chronic Intestinal Pseudo-obstruction
DNA: Sequencing of the ACTG2 and MYH11 GENES
Result: 2 weeks
Insurance: Most should cover
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.