|
| |
Tag-It™
Mutation Detection Kit
Ashkenazi Jewish Panel†
The Tag-It™ Ashkenazi Jewish Panel†
simultaneously screens for 31
mutations/polymorphisms in 8 genes
responsible for conditions that are
predominantly found in persons of Ashkenazi
ancestry (see Table below). Increased risk
for Tay Sachs
disease is also found in the Pennsylvania
Dutch, Southern Louisiana Cajuns, Irish
Americans and French Canadians from eastern
Quebec. The American College of
Obstetricians and Gynecologists (ACOG)
recommends screening for, at a minimum,
Tay-Sachs
disease, Canavan
disease, and familial
dysautonomia in patients of
European-Jewish ancestry.1
1. ACOG committee
opinion. Number 298, August 2004.
Prenatal and
preconceptional
carrier screening for genetic diseases in
individuals of Eastern European Jewish
descent. Obstet
Gynecol. 2004
Aug;104(2):425-8.
|
Mutations Detected |
|
Disease |
Gene |
Mutation/Polymorphism(s) |
|
Tay-Sachs
Disease |
HEXA |
D7.6kb**,
R247W*, R249W*, G269S,
IVS9(+1)G>A**, 1278insTATC,
IVS12(+1)G>C |
|
Canavan
Disease |
ASPA |
433(-2)A>G, Y231X(C>A & C>T*),
E285A, A305E |
|
Familial
Dysautonomia |
IKBKAP |
R696P, IVS20(+6)T>C |
|
Gaucher
Disease |
GBA |
84G>GG, IVS2(+1)G>A, N370S,
D55bp,
V394L, D409H**, L444P, R496H |
|
Bloom’s Syndrome |
BLM |
2281del6/ins7 |
|
Fanconi
Anemia GrpC |
FANCC |
322delG, IVS4(+4)A>T |
|
Niemann-Pick |
SMPD1 |
L302P, 1bp del P330fs, R496L,
DR608 |
|
Mucolipidosis
Type IV |
MCOLN1 |
D6.4kb,
IVS3(-2)A>G |
|
* Benign polymorphisms
** Reported in non-Ashkenazi Jewish
chromosomes |
|
Investigational Kits for detecting
mutations associated with eight
autosomal
recessive disease genes in a
multiplex format. |
|
Catalog Number |
Samples tested / Kit |
Description |
|
R010A0040 |
24 |
Ashkenazi Jewish Panel |
PCR Primer Mix
ASPE Primer Mix
Bead Mix
10X Wash Buffer
Tag-It™ Data Analysis Software
† For
Investigational Use Only. The performance
characteristics of this product have not
been established.
MATERIAL SAFETY DATA SHEET [click here]
|
|
|
|
|
