Myriad currently offers BRACAnalysis®
testing for breast and ovarian cancer; COLARIS®
testing for colorectal and endometrial cancer (HNPCC);
COLARIS AP® testing
for
colorectal polyps and cancer (adenomatous polyposis syndromes);
and MELARIS® testing for melanoma and pancreatic
cancer.
Technical Specifications:
BRACAnalysis®
Technical Specifications
COLARIS® Technical
Specifications
COLARIS AP®
Technical Specifications
MELARIS® Technical
Specifications
MYH Technical Specifications
|
|
|
Type of Test Analysis |
Test |
Gene(s) |
Cancer |
|
|
|
| BRACAnalysis® |
BRCA1,
BRCA2 |
Breast &
Ovarian |
x |
x |
x |
| COLARIS® |
MLH1,
MSH2, MSH6 |
HNPCC |
x |
x |
|
| COLARIS AP® |
APC, MYH |
FAP/AFAP/MAP |
x |
x |
|
| MELARIS® |
p16** |
Melanoma &
Pancreatic |
x |
x |
|
* Single Site Analysis is also known as Mutation-Specific
Analysis.
* * The p16 gene is also known as CDKN2A
or INK4A or MTS1. |
 |
| Comprehensive Analysis |
|
Comprehensive Analysis is full-sequence
and, in many cases, large rearrangement
analysis
of the gene or genes that are associated with a specific
inherited cancer syndrome. Possible test results
include: |
|
|
|
 |
Positive
for a deleterious mutation(s) —
A mutation(s) is found that is believed to
increase the risk of developing cancer. |
|
Genetic
variant(s) of uncertain significance
— A gene alteration(s)
is found but cancer risk has not yet been
determined with certainty.
Follow-up testing may be recommended to
try and clarify this result. Myriad will
provide an amended report when further data
regarding the specific variant is available. |
|
No mutation
detected —
No mutations are found in the gene or genes.
This result does not rule out the possibility
of a gene abnormality that cannot be detected
by DNA sequencing nor abnormalities in other
genes responsible for inherited susceptibility
to cancer.
|
|
|
|
| Back to top |
|
| Single Site (Mutation-Specific) Analysis |
|
When a gene mutation(s) has been previously identified
in another family member, this test will examine
a small portion of the DNA specifically for that
mutation(s). Possible results include: |
|
|
|
|
Positive
for specified mutation(s) —
The specific mutation(s) designated has been
found. This may be a mutation(s) that was previously
identified in another family member. Such
a result indicates an increased risk for
cancer. |
|
Negative
for specified mutation —
The specific mutation(s) designated is absent.
This usually means that the risk of cancer
is no greater than that of the general population.
In rare cases, more than one inherited mutation
runs in a family and a negative result from
a single site, or mutation-specific, analysis
would rule out only the specified mutation(s).
|
|
|
|
| Back to top |
|
| Multisite Analysis (available for BRACAnalysis® only) |
|
Multisite Analysis is only available for BRACAnalysis®.
It is for people of
Ashkenazi ancestry. It tests for the three most
common abnormalities found in people of this heritage.
Possible results include: |
|
|
|
|
Positive for
a deleterious mutation —
A mutation has been found that is believed
to increase the risk of developing breast
and ovarian cancer. |
|
No mutation
detected —
None of the three specific mutations in the
BRCA1 or BRCA2 genes were
found. It is important to remember that although
the three mutations analyzed by this test
account for most BRCA1 and BRCA2
mutations in individuals of
Ashkenazi ancestry, other mutations may
exist elsewhere in these genes. People with
negative Multisite 3 BRACAnalysis® test
results may still be at high risk of hereditary
breast and/or ovarian cancer due to other
changes in BRCA1 or BRCA2
genes. Reflex BRACAnalysis® testing can
help look for other mutations in the BRCA1
and BRCA2 genes. |
|
|
|
| Back to top |
|
| »
Cancer History Guide |
