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Canavan disease, DNA analysis; Cystic fibrosis profile, DNA analysis; Tay-Sachs disease, biochemical leukocytes

 
Jewish Heritage Carrier Screening Profile Offers Following Tests.

Tay-Sachs disease
– a neurodegenerative disease often resulting in death by age 4 (2)

Canavan disease
– a progressive leukodystrophy often resulting in death by age 10 (3,4)

Cystic fibrosis
– a disorder of pulmonary and pancreatic function. (5,6)

Familial dysautonomia
a sensory neuropathy characterized by gastrointestinal and cardiac dysfunction; about half of patients survive beyond age 30.(7,8)

Fanconi anemia
characterized by pancytopenia, congenital malformations, and a predisposition to malignancy. (9)

Niemann-Pick disease
– a neurodegenerative disease often resulting in death by age 3.(10)

Gaucher disease
– Type I-adult onset, characterized by bone and organ disease. Treatment is available. Types II and III are characterized by onset in infancy or childhood and also involve the central nervous system.(11)

Bloom syndrome
– associated with small stature and a predisposition to malignancy from chromosome breakage.(12)

Mucolipidosis Type IV
– a disease of psychomotor retardation and ophthalmological abnormalities. Prognosis and life expectancy beyond age 40 are unavailable.(13)

References
1. Gilbert F. Genetic diseases and testing in Ashkenazi Jews: Part I. Genet Test. 1997;(1):3-4.
2. Kaback M. Hexominidase A deficiency. GeneReviews. www.genetests.org [January 9, 2004]
3. Matalon R. Canavan Disease: Diagnosis and molecular analysis. Genet Test. 1997;1(1):21-25.
4. American College of Obstetricians and Gynecologists Committee on Genetics. Screening for Canavan Disease. 1998; Number 212.
5. Cystic Fibrosis. Chicago Center for Jewish Genetic Disorders. www.jewishgeneticscenter.org/what/ashkenazi/cystic.asp [January 10, 2003]
6. Cystic Fibrosis. Chicago Center for Jewish Genetic Disorders. www.jewishgeneticscenter.org/what/ashkenazi/cystic2.asp [January 10, 2003]
7. Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specifi c expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68:598-605.
8. Gilbert F. Familial dysautonomia and the expansion of the Ashkenazi Jewish carrier screening panel. Genet Test. 2001; 5(2):83-85.
9. Auerbach A. Fanconi anemia: Genetic testing in Ashkenazi Jews. Genet Test. 1997; 1(1):27-33.
10. Schuchman EH, Miranda SR. Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet Test. 1997;1(1):
11. Grabowski GA. Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genet Test. 1997; 1(1):5-12.
12. Roa BB, Savino CV, Richards CS. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test. 1999; 3(2):219-222.
13. Slaugenhaupt S. The Molecular Basis of Mucolipidosis Type IV. Curr Mol Med. 2002; 2:445-450.
14. American College of Obstetricians and Gynecologists Technology Assesment. Genetics and Molecular Diagnostic Testing. 2002; Number 1.
15. American College of Obstetricians and Gynecologists.Prenatal and Preconceptional Carrier Screening for Genetics Diseases in Individuals of Eastern European Jewish Descent. Washington, DC: ACOG; August, 2004. Technical Bulletin 298.
 
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