Genetic Institute

The institute is staffed by a multidisciplinary team of expert genetic physicians, certified genetic counselors, and nurses, as well as advanced laboratories for chromosome analysis and molecular biology that utilizes some of the most advanced technologies available. Providing professional, uncompromising care is the core principle guiding the institute, reflected in the investment of every effort and resource required for accurate diagnosis, treatment, and prevention of genetic diseases. In many cases, the diagnostic investigation even spans multiple continents.

Families come to the institute to identify rare and more common genetic diseases. The goal of the evaluation is to detect carrier status for a genetic defect before family planning, or to investigate individuals with a genetic condition or relatives with a genetic condition to identify the specific mutation and prevent its recurrence in future generations. Patients with various malignancies or a family history of cancer also come to identify genetic defects and take steps to prevent their recurrence.

Laboratories

• Cytogenetic Laboratory – for evaluating chromosomal abnormalities (in amniotic fluid, chorionic villus, blood), and FISH tests, which rapidly detect chromosomal defects.
  A new system was recently established to detect microdefects using the genetic chip method (CMA / aCGH).
• Molecular Laboratory – for detecting DNA mutations for preconception genetic screening of couples, as well as sophisticated diagnostic testing for specific genetic diseases.

The Team

The institute’s team includes three pediatric and medical genetic specialists, certified genetic counselors, and nurses trained in genetics. The laboratories are operated by paramedical staff, with each laboratory headed by a specialist in the field.

The institute’s physicians are regularly ranked among the best in their field, and the institute has received research grants from the Chief Scientist and the U.S.–Israel Binational Science Foundation. The institute is also affiliated with Tel Aviv University, training physicians, students, and genetic counselors.

Procedures

List of procedures performed in the department:

Chromosome tests in the Cytogenetic Laboratory:
• Amniocentesis
• Blood
• Bone marrow
• Skin
• Chorionic villus sampling (CVS)
• FISH tests

Tests in the Molecular Laboratory:
• Cystic Fibrosis
• Tay-Sachs
• Fragile X
• Canavan disease
• Gaucher disease
• Bloom syndrome
• Fanconi anemia (types A and C)
• Familial Dysautonomia
• Mucolipidosis IV
• Ataxia Telangiectasia
• Niemann-Pick disease
• Familial Mediterranean Fever
• Hemochromatosis
• BRCA1 and BRCA2
• Y-chromosome microdeletions
• Achondroplasia
• Limb-Girdle Muscular Dystrophy Type 2B