The Optional Panel

Dor Yeshorim never rests in our quest for genetically sound generations. We remain at the forefront of genetic research, constantly seeking new insights and genetic advances through research and collaboration with genome experts the world over. That’s why we currently offer an optional testing panel of additional genetic diseases which our research has shown to occur within the Jewish communities albeit at a somewhat lower frequency than the original diseases.

When it comes to healthy generations, we want everyone to have the best chances.

Ordering the optional panel of tests is simple and most often does not require a new blood sample. Just call our main office and order the optional panel for an additional fee.
BBS2 is an autosomal recessive disorder characterized by mild to moderate mental retardation, pigmentation of the retina with progressive deterioration of vision, kidney failure, obesity, limb malfunction and extra digits on the hands and/or feet. While it was originally believed to be found only in the Bedouin population, DY’s efforts have enabled the detection of two BBS2-causing mutations in the Ashkenazi community.
NM is an autosomal recessive neuromuscular disorder characterized by muscle weakness, especially in the face, neck and limbs, low muscle tone, and depressed or absent tendon reflexes. The disease usually presents in infancy, and muscle biopsies reveal the presence of nemaline bodies. DY found the Ashkenazic Jewish mutation after several families sought assistance.
DLDD- also known as Maple Syrup Urine Disease Type 3 and E3 deficiency, is an autosomal recessive metabolic disorder in which protein cannot be properly metabolized. This causes accumulation of toxic byproducts. Symptoms include recurrent vomiting, episodes of abdominal pain and changes in consciousness, an enlarged liver, and neurological complications. DY has encountered several incidences of this disease in Ashkenazic Jewish families.
USH1 is an autosomal recessive disorder characterized by profound congenital bilateral deafness, progressive vision abnormalities, and balance problems due to inner ear (vestibular) abnormalities. Affected children develop night blindness, which eventually progresses to loss of peripheral vision (tunnel vision) and to decreased acuity. DY encountered several incidences of this disease in Ashkenazic Jewish families.
JBTS is an autosomal recessive disorder characterized by a distinctive brain malformation visible on MRI examination, low muscle tone, abnormal breathing pattern, and developmental delay. Additional features may include abnormal eye movement, abnormal gait, mental retardation, vision problems, extra fingers and/ or toes, and kidney disease. DY played a significant role in this gene discovery after several families sought DY’s assistance.
WWS is an autosomal recessive disorder characterized by muscular weakness present at birth, along with severe brain and eye abnormalities. The surface of the brain is abnormally smooth (lissencephaly), the cerebellum and brainstem are underdeveloped, and most infants have water on the brain (hydrocephalus). Congenital cataracts and retina malformations are usually also present. Severe developmental delay ensues, and most affected children die in early childhood. Upon encountering several incidences of this disease in Ashkenazic Jewish families, DY determined that this disease occurs in the Ashkenazi community at a higher frequency than initially believed.
MSUD1B is an autosomal recessive disorder of amino acid metabolism which usually presents at or several days after birth. From early infancy, symptoms include poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, irregular breathing, decreased level of consciousness, and neurological decline. DY encountered several incidences of this disease in Ashkenazic Jewish families.

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