Tag Archives: #genetictesting

Tay Sachs Disease

Tay Sachs-min

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech Consultant

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Tay Sachs Disease is a common Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 30) and affects (1 in 3600) pregnancies.

Tay Sachs Disease: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Tay Sachs Disease is a fatal metabolic blood disease usually detected by age 6. A few cases of adult onset Tay Sachs have been described.

http://www.curetay-sachs.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

ABC’s of Prenatal Diagnosis – Book Chapter Headings

Baby Hand - Color-min 

The ABC’s of Prenatal Diagnosis: “A Guide to Pregnancy Testing and Issues” Chapter Headings

(PDF of paper format, 181 pages, ISBN #0-9644243-3-9)

www.genassistabcs.com

  • ABC’s of Pregnancy
  • Adoption
  • AFP/AFP2/AFP3/AFP4/AFP5
  • Age – Maternal/Paternal
  • Amniocentesis
  • Amniotic Bands
  • Beta HCG
  • Blood Chromosomes
  • Chromosomal Abnormalities
  • CVS – Chorionic Villus Sampling
  • Cystic Fibrosis- Preconceptional & Prenatal Screening
  • DNA Testing & Microdeletions
  • Down Syndrome
  • “Early” Amniocentesis
  • Ectopic Pregnancy
  • Fetal Growth
  • Fetal Maternal DNA
  • Fetal Tissue
  • 1st & 2nd Trimester Aneuploidy Screening
  • Genetic Consultation
  • Infections in Pregnancy
  • Insurance
  • In-Utero Surgery
  • Laboratory
  • Licensure
  • Maternal Fetal DNA
  • Microarray & Appendix (Over 170 tests)
  • Miscarriage
  • Newborn Testing
  • Paternity Testing
  • Preimplantation Genetics (PGD)
  • Prenatal Testing
  • Recurrence Risk
  • Rh Factor
  • Sexing Your Baby
  • Sex Selection – Preconceptional
  • Test Results – Abnormals
  • Twins/Triplets etc.
  • Ultrasound & “Ultrasound Markers”
  • Umbilical Cord Sampling

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