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 educational programs for over 44 years. Known worldwide for our clinical and laboratory diagnostic, counseling, and evaluation services, we are privileged to serve physicians, institutions, and patients from 45 countries and every state in the U.S. Our Center remains dedicated to the care of all who need evaluation for a genetic diagnosis, genetic counseling, prenatal diagnosis, carrier detection, or predictive testing. We are very aware of the concerns, anxieties, pain, and care our patients need.

CLINICAL SERVICE

An important focus of our clinical and laboratory services are the CONNECTIVE TISSUE DISORDERS including the Ehlers-Danlos syndrome, Marfan syndrome, and many others.

LABORATORY SERVICE

We provide DNA cancer tests and chromosome and other DNA analyses for many different genetic disorders that affect:

• Nervous system (e.g. autism, intellectual disability)
• Cardiovascular system (e.g. aneurysms)
• Gastrointestinal system (e.g. colon polyps/cancer)
• Renal system (e.g. Von Hippel-Lindau syndrome)
• Musculo-skeletal system (e.g. muscular dystrophy)
• Immune system (e.g. X-linked lymphoproliferative disease)
• Hematological system (e.g. clotting and bleeding disorders)
• Dermatological system (e.g. melanoma)

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 3-4 week turnaround time. In addition to connective tissue disorders (CONNECT2, 47 genes) and autism spectrum disorders (ASD, 53 genes), 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 greater than 99% of targeted regions for CONNECT2 and approximately 95% for autism spectrum disorder analyses. MLPA assays are also available for genes with 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 genes with 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 greater than 99% of targeted regions.

CONNECT2 is the optimal cost-effective first line test for individuals with suspected hereditary connective tissue disorders or 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 available 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!

Paternity Testing

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.

Jeff Milunsky, MD, FACMG Co-Director, Center for Human Genetics, Inc. Senior Director, Molecular Genetics Formerly Professor of Genetics and Genomics, and Pediatrics Order any testing.

Aubrey Milunsky, MD, DSc, FRCP, FACMG, DCH Founder and Co-Director, Center for Human Genetics, Inc. Formerly Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology, and Pathology Order any testing.