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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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Information related to carrier screening

Documents

pdf AAP-ACMG-Minor-Position-Statement Popular

645 downloads

Download (pdf, 647 KB)

ACMG AAP statement on testing minors - Peds 2013.pdf

A statement on carrier screening for minors from the American Academy of Pediatrics (AAP) and the American College of Medical Genetics (ACMG).

document NTSAD Position Statement TS Carrier Screening Popular

1972 downloads

Download (doc, 46 KB)

NTSAD-Position-Statement-TS-Carrier-Screening.doc

NTSAD's “Standards for Tay-Sachs Carrier Screening”.

As the American population continues to intermarry at a significant rate, leading to a more diverse genetic admixture, enzymatic analysis is recommended as the primary testing modality for identifying carriers for Tay-Sachs disease.

 

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