NxGen Ashkenazi Jewish Panel
With over 99% accuracy, the NxGen Ashkenazi Jewish Panel is one of the world's most precise and thorough tests for detecting genetic changes that cause the 19 common genetic disorders that may impact the development or medical care needed for a future child.
What Is It?
The Ashkenazi Jewish Panel is recommended for North Americans of Jewish descent. As a group, they have a 1 in 4 chance of being a carrier of common Jewish genetic diseases like Tay-Sachs disease, Canavan disease, and cystic fibrosis, among others. For more information about this panel, download the brochure. The NxGen Ashkenazi Jewish Panel can detect your risk for carrying the following genetic diseases specific to families of Ashkenazi Jewish descent:
- Gaucher Disease Type 1
- Tay-Sachs Disease
- Cystic Fibrosis (CF)
- Familial Dysautonomia (FD)
- Spinal Muscular Atrophy
- Canavan Disease
- ABCC8-related Hyperinsulinism
- Glycogen Storage Disease type 1A (GSD1A)
- Maple Syrup Urine Disease (MSUD)
- Fanconi Anemia Type C
- Niemann-Pick Disease, SMPD1-associated
- Joubert Syndrome
- Dihydrolipoamide Dehydrogenase Deficiency (DLD)
- Bloom Syndrome
- Usher Syndrome Type III
- Walker-Warburg Syndrome
- Mucolipidosis IV Mucolipidosis IV
- Usher Syndrome Type 1F
- Nemaline Myopathy
Who Should Take It?
The Ashkenazi Jewish Panel is recommended for individuals with at least one of the following characteristics:
- All individuals of Jewish ancestry, in their childbearing years, regardless of gender
- Individuals with at least one grandparent of Ashkenazi descent
- Individuals considering in vitro fertilization
When testing, our laboratory analyzes all of the coding DNA in a gene to determine if any disease-causing pathogenic variants are present. By sequencing all of the coding DNA in a gene, instead of just a portion, we are able to offer the most accurate genetic testing available, regardless of your ethnicity. The majority of laboratories are only sequencing a portion of the gene, leaving room for error with missed pathogenic variants, especially when testing a variety of ethnicities. By sequencing the entire gene, NxGen MDx testing eliminates the doubt in a negative result and drastically reduces the residual risk, regardless of ethnicity.
- Committee on Genetics, American College of Obstetricians and Gynecologists (2009). Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstetrics and Gynecology, 114(4): 950-953.
- Committee on Genetics, American College of Obstetricians and Gynecologists (2005, reaffirmed 2007). Screening for Tay-Sachs disease. Obstetrics and Gynecology, 106(4):893-894.
- Cunningham, et al (2010). Prenatal diagnosis and fetal therapy. In Williams Obstetrics, 23rd ed, New York: McGraw-Hill Medical; chap 13:287-311.
- Gross, (2008). Carrier screening individuals of Ashkenazi Jewish descent. Genet Med, 10(1):54-56.
- Monaghan, et al (2008). Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med, 10(1):57-72.
- Schneider, et al (2009). Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st Century: Hexosaminidase A enzyme assay is essential for accurate testing. Am J Med Genet, Part A 149A:2444-2447.
- Scott, et al (2010). Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Human Mutation, 31(11): 1240-1250.
- Myerowitz, R. (1997). Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. Human Mutation 9:195-208.
- Gravel, et al (2001). The GM2 gangliosidosis. In The Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York, McGraw-Hill Book Company, pp 3827-3876.
- Kaback (2000). Population-based genetics screening for reproductive counseling: the Tay-Sachs experience. Eur J Pediatr, 159:192-195.
- Kaback, et al (1993). Tay-Sachs Disease– Carrier Screening, Prenatal Diagnosis, and the Molecular Era: An International Perspective, 1970 to 1993. JAMA, 270:2307-2315.
- Sutton (2002). Tay-Sachs disease screening and counseling families at risk for metabolic disease. Obstet Gynecol Clin North Am, 29(2):287-296.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results