The Unit of Pediatric Genetics diagnoses and treats genetic syndromes that manifest in childhood. Children with genetic problems from all over Israel are referred to the clinic. The most common reasons are delays in development, autism, congenital defects and hereditary diseases. The unit also counsels the different pediatric departments at Shaare Zedek and the NICU. The goal is to find the genetic cause for the child's condition, create an individualized treatment plan, assess the risk for recurrence of the situation and prevent the birth of additional children with the same condition.
The unit also offers multi-disciplinary clinics such as the Neurofibromatosis Clinic, the Neuro-Genetic Clinic and the Tuberos Sclerosis Clinic. These are unique diagnosis and treatment centers for these rare syndromes, with expert physician from various fields of medicine: pediatric neurology, adult neurology, pediatric ophthalmology, pediatric kidneys, pediatric orthopedics, plastics and more.
Before visiting the clinic, please fax your referral letter and a payment guarantee.
When coming to the clinic, please bring with you all medical documentation, including the results of all the tests done to the child or the mother during her pregnancy. If you have additional information regarding the medical status of other family members that might be relevant to your child's condition, please bring it.
It is highly recommended that both parents accompany the child, at least for the first visit, since the information gathered during this session relates to the extended family.
During the visit the staff will review the child's medical history and create a family tree. In addition a physical examination of the child will be performed, with emphasis on minute details in the physical and facial structure.
After the session, a summation letter with instruction for further testing is sent to the family and the primary physician. These tests include tests that are meant to gather more information about the physical findings (such as x-rays, ultrasound, biochemistry) and genetic tests such as CMA or gene sequencing. Many new genetic methods developed in recent years such as the axome sequencing, that can be done at the clinic.
Follow-up sessions are conducted every few months, after receiving test results, for explanations of the results and for further instructions regarding the investigation and treatment. Even if no diagnostic results are received after the initial genetic screening, we strongly recommend that you continue with the follow-up sessions and the genetic investigation.
Dr. Reeval Segal
Pediatric physician specializing in medical genetics
Main Building, 5th Floor, Medical Genetics Institute