1-800-533-1710
Laboratory Service Report
Patient Name
ENHANCEDREP,VLD20150821A0068
Ordering Phys
CLIENT,CLIENT
Client Order #
SA00002998
Collected
08/20/2015 12:51
Printed
08/25/2015 15:34
Test
Patient ID
SA00002998
Age
34
Account Information
Gender Order #
M
SA00002998
DOB
01/01/1981
Report Notes
C7028846-DLMP Rochester
SDSC 2 - Client Support
Rochester, MN 55901
Flag
Results
Reference
Value
Unit
Perform
Site*
TP53 gene somatic mutation analysis
Specimen Type
Peripheral blood
Final Diagnosis:
Peripheral blood, TP53 Analysis for Tumor-associated
Mutations, Sequencing:
Positive.
A mutation in the
MCR
MCR
TP53 gene was detected.
The mutation identified is:NM_000546.4(TP53): c.610del;
p.Glu20Serfs*43.
The predicted effect of this mutation is: likely
pathogenic. Somatic TP53 mutations often result in loss of
protein function, although in some cases, the changes could
result in an aberrant gain of function
(http:/www-p53.iarc.fr/FunctionCriteria.asp and
http:/p53.free.fr/Database/p53_recommendations.html).
The identified TP53
mutation in this specimen is most
likely a somatic alteration in the neoplastic cell
population; however, a small possibility exists that this
abnormality may be a germline nucleotide change (i.e.
present in all cells at birth and typically inherited from
a parent rather than somatically acquired). Congenital
TP53 mutations are known to cause an inherited cancer
syndrome known as Li-Fraumeni syndrome. If this individual
has a strong family history of cancer, consultation with a
geneticist or genetic counselor may be beneficial.
Signing Pathologist: Melissa
Tricker-Klar
-------------------ADDITIONAL INFORMATION------------------Method Summary: DNA was extracted from the sample and PCR
was performed to amplify exon regions 4 to 9 of the TP53
gene. This assay uses Sanger sequencing to detect the
presence or absence of acquired (somatic) TP53 mutations
involving exons 4 to 9 and associated splice junctions.
However, mutations outside of the analyzed region, or
mutations present at low level or in small subclonal
populations below the analytic sensitivity of the assay
(approximately 20%) cannot be excluded by this method (See
Mayo Medical Laboratories Interpretive Handbook for method
details).
Laboratory developed test.
PDF Report available at:
https://test.mmlaccess.com/Reports/C7028846-qgDaUiu3J1.ashx
***Performing Site Legend on Last Page of Report***
Patient Name
Collection Date and Time
ENHANCEDREP,VLD20150821A0068
08/20/2015 12:51
Page 1 of 2
* Report times for Mayo performed tests are CST/CDT
Report Status
Final
>> Continued on Next Page >>
1-800-533-1710
Laboratory Service Report
Patient Name
ENHANCEDREP,VLD20150821A0068
Ordering Phys
CLIENT,CLIENT
Client Order #
SA00002998
Collected
08/20/2015 12:51
Printed
08/25/2015 15:34
Test
RECEIVED: 08/21/2015 13:45
Patient ID
SA00002998
Account Information
Age
34
Gender Order #
M
SA00002998
DOB
01/01/1981
Report Notes
C7028846-DLMP Rochester
SDSC 2 - Client Support
Rochester, MN 55901
Flag
Results
Unit
Reference
Value
Perform
Site*
REPORTED: 08/24/2015 11:24
* Performing Site:
MCR
Mayo Clinic Laboratories - Rochester Main Campus
200 First St SW Rochester, MN 55905
Patient Name
Collection Date and Time
ENHANCEDREP,VLD20150821A0068
08/20/2015 12:51
Page 2 of 2
* Report times for Mayo performed tests are CST/CDT
Lab Director: William G. Morice, II, M.D., Ph.D.
Report Status
Final
** End of Report **