Ashkenazi Jewish Panel

Benefits

•	Fastest turnaround time in the industry — approximately two weeks compared to up to five weeks for other laboratories
•	Minimal specimen volume required
•	Comprehensive, informative report

Clinical Summary
This Ashkenazi Jewish Panel detects mutations associated with the following eight disorders that commonly occur in Ashkenazi-Jewish (Eastern European Jewish) individuals:

•	Bloom syndrome
•	Canavan disease
•	Cystic fibrosis
•	Familial dysautonomia
•	Fanconi anemia group C
•	Gaucher disease
•	Niemann-Pick disease types A and B
•	Tay-Sachs disease

The panel simplifies 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 Jew, is recommended.

Carrier Frequency and Detection Rate in the Ashkenazi-Jewish Population
Disease	Carrier Frequency	Number of Mutations Detected	Carrier Detection Rate (%)
Bloom syndrome	1 in 100	1	97
Canavan disease	1 in 40	4	99
Cystic fibrosis	1 in 25	25	97
Familial dysautonomia	1 in 30	1	>98
Fanconi anemia group C	1 in 89	1	99
Gaucher disease	1 in 13	4	96
Niemann-Pick disease	type A: 1 in 90	4	96
	type B: Unknown	4	>95
Tay-Sachs disease	1 in 30	3	98

Quest Diagnostics Genetics Center
Physicians, if you need assistance with any genetic test, the Quest Diagnostics Genetics Center is ready to assist you. A dedicated genetics customer service professional will answer your question or, if appropriate, connect you with one of our:

•	Seventeen directors certified by the American Board of Medical Genetics,
•	Eight genetic counselors certified by the American Board of Genetic Counseling, or
•	Two academic associates who are thought leaders from academic medical centers.

Contact the Genetics Center toll-free, at 1-866-GENE-INFO (1-866-436-3463). Our technical experts will be glad to assist you.

Online Resources for Healthcare Professionals

•	Obtain test ordering codes and specimen requirements from our online Test Menu.
•	Learn about genetic test selection, utilization, and interpretation in our Interpretive Guide.
•	Simplify test ordering and results reporting with our connectivity solutions.
•	Learn more about our genetic testing capabilities.
•	Read "Genomics meets reality" from the Quest Diagnostics Physician’s Update Newsletter, Winter 2002. This article discusses use of genetic testing to screen large segments of the population for cystic fibrosis.

Online Test Information for Your Patients

•	Our patient brochure for carrier screening in the Ashkenazi Jewish population is available in both English and Russian. To obtain a supply of these brochures for your office, contact your Quest Diagnostics sales representative.
•	Your patients can learn about health conditions and laboratory tests in our online Patient Health Library. The library is founded on evidence-based information, and includes topics such as:
	–	Bloom Syndrome
	–	Canavan’s Leukodystrophy
	–	Familial Dysautonomia
	–	Fanconi’s Anemia
	–	Gaucher Disease
	–	Niemann Pick Disease
	–	Tay-Sachs Disease
	–	Genetic Testing
	–	Ask-the-Doctor Checklist
	–	Work in Partnership with Your Doctor
	–	Share in Every Medical Decision
	–	Healthwise Self-Care Checklist
	–	Making Wise Health Decisions

The Disorders

•	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 occurs in the teens or twenties, most often caused by cancer.
•	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 by age four.
•	Cystic fibrosis: Characteristic manifestations include recurrent lung infections, malabsorption, malnutrition, and infertility (especially in males). Median survival is 30 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.
•	Niemann-Pick disease types A and B: This lysosomal storage disorder is characterized by diminished acid sphingomyelinase activity. Type A is usually fatal within 2 to 3 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 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.

Contact a Quest Diagnostics Sales Representative, learn more about our testing services, and become a client

•	Contact a physician sales representative
•	Contact a hospital sales representative or learn about our complete hospital offerings

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