Jewish American Heritage Month

Posted By richards on August 25, 2015

The Ashkenazi Jewish panels detect mutations associated with disorders that commonly occur in Ashkenazi Jewish (Eastern European Jewish) individuals (see below). Two panels are offered: 1) a 4-test panel, which includes the genetic tests recommended by ACOG and ACMG (for Canavan disease, cystic fibrosis, familial dysautonomia, and Tay-Sachs); and 2) an 11-test panel, which also includes tests for 7 other diseases common among Ashkenazi Jewish individuals. The panels simplify test ordering for Ashkenazi Jewish individuals who wish to know their carrier status and/or their risk of having a child with any of these disorders. It is most frequently used for Ashkenazi Jews and their partners who are pregnant or contemplating pregnancy. Since all of these disorders are autosomal recessive, both parents must be carriers for the couple to have an affected child. If one partner is Ashkenazi Jewish and the other is not, sequential screening, beginning with the Ashkenazi Jewish individual, is recommended.

A brief description of each disorder follows.

Bloom Syndrome

Children with Bloom syndrome are affected with growth retardation, abnormalities in skin pigmentation, immunodeficiency, a predisposition to cancer, and chromosomal instability. Death usually results from cancer at a mean age of 27.

Canavan Disease

Canavan disease (aspartoacylase deficiency) is a progressive neurologic disease characterized by increased head circumference, decreasing muscle tone and motor activity, progressive loss of visual responsiveness, and mental retardation. Death usually occurs in the first few years of life, although some individuals survive into their teens.

Cystic Fibrosis

Characteristic manifestations include recurrent lung infections, malabsorption, malnutrition, and infertility (especially in males). Median survival is approximately 37 years.

Familial Dysautonomia

Familial dysautonomia is characterized by abnormal functioning of the sensory and autonomic nervous systems. This causes decreased sensitivity to pain, abnormal regulation of body temperature, paroxysmal hypertension, and gastrointestinal abnormalities.

Fanconi Anemia Group C

Fanconi anemia is characterized by deficient bone development and bone marrow function. This can lead to pancytopenia, anemia, leukemia, and malformations of the limbs, kidneys, and heart. The disorder may be mild or severe.

Gaucher Disease

Gaucher disease is a lysosomal glycolipid storage disorder caused by an enzymatic deficiency (acid beta- galactosidase deficiency). Individuals may have an enlarged liver and spleen, thrombocytopenia, anemia, bone pain, bone lesions, and fractures. Life expectancy depends on severity of the symptoms.

Glycogen Storage Disease Type 1a

This disorder is caused by a toxic buildup of glycogen and fat in the liver, kidneys, and small intestines. Affected children tend to have short stature, thin arms and legs, and enlarged liver and kidneys. Adults may have osteoporosis, gout, kidney disease, pulmonary hypertension, and polycystic ovary disease.

Maple Syrup Urine Disease

This disease is caused by buildup of leucine, isoleucine, and valine. Affected infants show poor feeding, vomiting, lethargy, delayed development, and sweet-smelling urine. Untreated disease can lead to seizures, coma, and death within the first few months after birth.

Mucolipidosis IV

This neurodegenerative lysosomal storage disorder is characterized by growth and psychomotor retardation, progressive retinal degeneration, clouding of the cornea, and crossed eyes. The majority of infants with the disorder fail to develop past the level of a 1- to 2-year-old and never speak or walk. They may have a normal life expectancy.

Niemann-Pick Disease Types A and B

This lysosomal storage disorder is characterized by diminished acid sphingomyelinase activity. Type A is usually fatal within 3 to 5 years. These children fail to thrive, have an enlarged liver and spleen, and exhibit progressive mental and physical degeneration. Individuals with type B also have hepatosplenomegaly (along with cirrhosis, portal hypertension, ascites, and pancytopenia), but little to no neurologic involvement. They often survive into adolescence and adulthood.

Tay-Sachs Disease

Tay-Sachs disease is a progressive, neurodegenerative disorder caused by an enzymatic deficiency (hexosaminidase A). The classic infantile form is characterized by developmental retardation followed by paralysis, dementia, seizures, and blindness. Death usually occurs by age 4.

Follow this link:
Ashkenazi Jewish Panel - Quest Diagnostics

Category: Ashkenazi
Tags: