Lab Test

SAMPLE LAB REPORTS
FOR PRENATAL LABORATORY-DEVELOPED TESTING SERVICES
Noninvasive test for

chromosomal abnormalities
QUALITY OF SCIENCE
Lab Report

Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Final Report 877.821.7266
Ordering Provider: Doe, John, MD Patient: Sample, Jane
Provider Location: Grand Rapids DOB: 09/13/1970
Provider Phone: 555-555-5555 Patient ID: 12345-01234
Date Ordered: 11/28/2012 Specimen: 1035600024
Date Collected: 11/29/2012 Referral Clinician: Smith, Jane, GC
Date Received: 11/30/2012 Lab Director: Juan-Sebastian Saldivar, MD
Order ID: ORD12345-01234 Date Reported: 04/29/2013 6:00 PM PT
Performance
Test Result for Chromosomes 21, 18 and 13 The performance characteristics of the MaterniT21 PLUS laboratory-
developed test (LDT) have been determined in a clinical validation
This specimen showed an study with pregnant women at increased risk for fetal chromosomal
aneuploidy.1,2,3
expected representation of
Negative chromosome 21, 18 and 13
material. Clinical correlation is
Intended Use Performance
Confidence Interval
(95% CI)
suggested. Sensitivity: 99.1% 96.3–99.8%

Trisomy 21
Specificity: 99.9% 99.6–99.9%
Test Result for Y Chromosome Trisomy 18
Sensitivity: >99.9% 92.4–100.0%
Specificity: 99.6% 99.2–99.8%
No Y chromosomal Sensitivity: 91.7% 59.7–99.6%
Consistent with a female fetus. Trisomy 13
material detected Specificity: 99.7% 99.3–99.9%
Y chromosome Accuracy: 99.4% 99.0–99.6%
Test Method
Circulating cell-free DNA was purified from the plasma component of
anti-coagulated maternal whole blood. It was then converted into a Limitations of the Test
genomic DNA library for the determination of chromosome 21, 18 and DNA test results do not provide a definitive genetic risk in all
13 representation and other chromosomal abnormalities including fetal individuals. Cell-free fetal DNA does not replace the accuracy and
chromosome 22, 16 and sex aneuploidies, X and Y representation, and precision of prenatal diagnosis with CVS or amniocentesis.
subchromosomal copy number variants (microdeletions).1
A patient with a positive test result should be referred for genetic
About the Test counseling and offered invasive prenatal diagnosis for confirmation
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted of test results.4 A negative test result does not ensure an unaffected
from a maternal blood sample. The test is indicated for use in pregnant pregnancy. While results of this testing are highly accurate, not
women with increased risk for chromosomal aneuploidy. Validation all chromosomal abnormalities may be detected due to placental,
data on twin pregnancies is limited and the ability of this test to detect maternal or fetal mosaicism, or other causes. Sex chromosomal
aneuploidy in a triplet pregnancy has not been validated. aneuploidies are not reportable for known multiple gestations. The
health care provider is responsible for the use of this information in
the management of their patient.
Note
This test was developed and its performance characteristics determined
by Sequenom Laboratories. It has not been cleared or approved by
the U.S. FDA. This test is used for clinical purposes. It should not be
regarded as investigational or for research. This laboratory is certified
under the Clinical Laboratory Improvement Amendments (CLIA) as
qualified to perform high complexity clinical laboratory testing and
accredited by the College of American Pathologists.
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
3. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
4. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Juan-Sebastian Saldivar, MD
Laboratory Director, Sequenom Laboratories
xx/xx/2013
Sequenom®, MaterniT21™, and MaterniT21™ PLUS are trademarks of Sequenom. ©2013 Sequenom Laboratories. 34-40019R5.0
MaterniT21™ PLUS Lab Report Page 1 of 1 Sample, Jane Order ID: ORD12345-01234
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
These results are consistent study with pregnant women at increased risk for fetal chromosomal
aneuploidy.1,2,3
with an increased amount
of chromosome 21 material Confidence Interval
Intended Use Performance (95% CI)
(trisomy 21), such as may
Positive for be found in pregnancies with Trisomy 21
Sensitivity: 99.1% 96.3–99.8%
Trisomy 21 Down syndrome. Expected

chromosomal representation
Specificity: 99.9%
Sensitivity: >99.9%
99.6–99.9%
92.4–100.0%
for chromosomes 18 and Trisomy 18
Specificity: 99.6% 99.2–99.8%
13. Clinical correlation is
Sensitivity: 91.7% 59.7–99.6%
suggested. Trisomy 13
Specificity: 99.7% 99.3–99.9%
Test Result for Y Chromosome
Y chromosomal Limitations of the Test

Consistent with a male fetus.
material detected DNA test results do not provide a definitive genetic risk in all
individuals. Cell-free fetal DNA does not replace the accuracy and
precision of prenatal diagnosis with CVS or amniocentesis.
Test Method
counseling and offered invasive prenatal diagnosis for confirmation
anti-coagulated maternal whole blood. It was then converted into a
genomic DNA library for the determination of chromosome 21, 18 and of test results.4 A negative test result does not ensure an unaffected
13 representation and other chromosomal abnormalities including fetal pregnancy. While results of this testing are highly accurate, not
chromosome 22, 16 and sex aneuploidies, X and Y representation, and all chromosomal abnormalities may be detected due to placental,
subchromosomal copy number variants (microdeletions).1 maternal or fetal mosaicism, or other causes. Sex chromosomal
aneuploidies are not reportable for known multiple gestations. The
About the Test health care provider is responsible for the use of this information in
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted the management of their patient.
from a maternal blood sample. The test is indicated for use in pregnant
women with increased risk for chromosomal aneuploidy. Validation Note
data on twin pregnancies is limited and the ability of this test to detect This test was developed and its performance characteristics determined
aneuploidy in a triplet pregnancy has not been validated. by Sequenom Laboratories. It has not been cleared or approved by
References
xx/xx/2013
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
aneuploidy.2,3,4
Confidence Interval
(95% CI)

Trisomy 21
Specificity: 99.9% 99.6–99.9%
Sensitivity: >99.9% 92.4–100.0%
Specificity: 99.6% 99.2–99.8%
Additional Findings: Decreased

representation of chromosome 22q. Limitations of the Test
DNA test results do not provide a definitive genetic risk in all
These findings are suggestive of a 22q deletion, precision of prenatal diagnosis with CVS or amniocentesis.
affecting the region associated with DiGeorge, and A patient with a positive test result should be referred for genetic
several phenotypically overlapping syndromes. counseling and offered invasive prenatal diagnosis for confirmation
of test results.5 A negative test result does not ensure an unaffected
22q11 (DiGeorge, Velocardiofacial, Shprintzen, Sedlackova, and pregnancy. While results of this testing are highly accurate, not
conotruncal anomaly face syndromes) is an autosomal dominant all chromosomal abnormalities may be detected due to placental,
condition caused by a submicroscopic deletion of the long arm maternal or fetal mosaicism, or other causes. Sex chromosomal
of chromosome 22. The disorder is characterized by Cardiac aneuploidies are not reportable for known multiple gestations. The
Abnormalities, Abnormal Facies, Thymic Aplasia, Cleft Palate, health care provider is responsible for the use of this information in
Hypocalcemia (CATCH-22). Incidence is ~1 in 4000 births. Most the management of their patient.
cases are not inherited (de novo) but transmission from a parent
carrying the 22q11 deletion is seen in ~7% of cases.1 Note
Test Method the U.S. FDA. This test is used for clinical purposes. It should not be
Circulating cell-free DNA was purified from the plasma component under the Clinical Laboratory Improvement Amendments (CLIA) as
of anti-coagulated maternal whole blood. It was then converted into qualified to perform high complexity clinical laboratory testing and
a genomic DNA library for the determination of chromosome 21, accredited by the College of American Pathologists.
18 and 13 representation and other chromosomal abnormalities
including fetal chromosome 22, 16 and sex aneuploidies, X and References
Y representation, and subchromosomal copy number variants 1. http://www.ncbi.nlm.nih.gov/books/NBK1523.
(microdeletions).2 2. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
About the Test 4.
5.
Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
The MaterniT21 PLUS test analyzes circulating cell-free DNA
extracted from a maternal blood sample. The test is indicated Juan-Sebastian Saldivar, MD
for use in pregnant women with increased risk for chromosomal Laboratory Director, Sequenom Laboratories
aneuploidy. Validation data on twin pregnancies is limited and the xx/xx/2013
ability of this test to detect aneuploidy in a triplet pregnancy has
not been validated.
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Order ID: ORD12345-01234 Date Reported: 04/29/2013 6:00 PM
PM PT
Performance
aneuploidy.2,3,4
Confidence Interval
(95% CI)

Trisomy 21
Specificity: 99.9% 99.6–99.9%
Sensitivity: >99.9% 92.4–100.0%
Specificity: 99.6% 99.2–99.8%

representation of chromosome 5p. Limitations of the Test
These findings are suggestive of a 5p deletion, precision of prenatal diagnosis with CVS or amniocentesis.
affecting the region associated with Cri-du-chat A patient with a positive test result should be referred for genetic
syndrome. counseling and offered invasive prenatal diagnosis for confirmation
Cri-du-chat (5p minus) is caused by a partial deletion of the pregnancy. While results of this testing are highly accurate, not
short arm of chromosome 5. The disorder is characterized all chromosomal abnormalities may be detected due to placental,
by intellectual disability, developmental delay, microcephaly, maternal or fetal mosaicism, or other causes. Sex chromosomal
hypotonia, distinctive facies, heart defects, and a characteristic aneuploidies are not reportable for known multiple gestations. The
cat-like cry. This condition affects all ethnicities and incidence is health care provider is responsible for the use of this information in
~1 in 50,000 births. It is more frequent in females. Most cases are the management of their patient.
not inherited (de novo) but transmission from an unaffected parent
carrying a balanced translocation is seen in ~10% of cases.1
Note
Test Method regarded as investigational or for research. This laboratory is certified
genomic DNA library for the determination of chromosome 21, 18 and
13 representation and other chromosomal abnormalities including fetal
chromosome 22, 16 and sex aneuploidies, X and Y representation, and
References
1. http://omim.org/entry/123450.
About the Test 4. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted 5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
women with increased risk for chromosomal aneuploidy. Validation Juan-Sebastian Saldivar, MD
data on twin pregnancies is limited and the ability of this test to detect Laboratory Director, Sequenom Laboratories
aneuploidy in a triplet pregnancy has not been validated. xx/xx/2013
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
aneuploidy.3,4,5
material. Clinical correlation is Intended Use Performance
Confidence Interval
(95% CI)
Trisomy 21
Specificity: 99.9% 99.6–99.9%
Test Result for Y Chromosome Sensitivity: >99.9% 92.4–100.0%
Trisomy 18
Specificity: 99.6% 99.2–99.8%
No Y chromosomal
Consistent with a female fetus. Sensitivity: 91.7% 59.7–99.6%
material detected Trisomy 13
Specificity: 99.7% 99.3–99.9%
representation of chromosome 15q. Limitations of the Test
These findings are suggestive of a 15q deletion, individuals. Cell-free fetal DNA does not replace the accuracy and
affecting the region associated with Angelman and precision of prenatal diagnosis with CVS or amniocentesis.
Prader-Willi syndromes. A patient with a positive test result should be referred for genetic
Both Angelman (AS) and Prader-Willi (PWS) syndromes may be of test results.6 A negative test result does not ensure an unaffected
caused by deletions on the long arm of chromosome 15. Maternal pregnancy. While results of this testing are highly accurate, not
deletions lead to AS while paternal deletions result in PWS. all chromosomal abnormalities may be detected due to placental,
Seventy percent of both AS and PWS are caused by deletions maternal or fetal mosaicism, or other causes. Sex chromosomal
on the long arm of chromosome 15. These disorders affect the aneuploidies are not reportable for known multiple gestations. The
nervous system and, while both result in developmental delay, health care provider is responsible for the use of this information in
each presents with its own unique clinical features. The severity the management of their patient.
of these syndromes warrants additional studies, FISH and/
or methylation PCR, for appropriate diagnosis and to facilitate
Note
relevant genetic counseling. These conditions affect all ethnicities This test was developed and its performance characteristics determined
and incidence is ~1 in 20,000.1,2 by Sequenom Laboratories. It has not been cleared or approved by
Test Method qualified to perform high complexity clinical laboratory testing and
Circulating cell-free DNA was purified from the plasma component of accredited by the College of American Pathologists.
genomic DNA library for the determination of chromosome 21, 18 and References
13 representation and other chromosomal abnormalities including fetal 1. http://www.ncbi.nlm.nih.gov/books/NBK1144.
chromosome 22, 16 and sex aneuploidies, X and Y representation, and 2. http://www.ncbi.nlm.nih.gov/books/NBK1330.
subchromosomal copy number variants (microdeletions).3 3. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted
women with increased risk for chromosomal aneuploidy. Validation
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
aneuploidy.2,3,4
Confidence Interval
(95% CI)

Trisomy 21
Specificity: 99.9% 99.6–99.9%
Sensitivity: >99.9% 92.4–100.0%
Specificity: 99.6% 99.2–99.8%

representation of chromosome 1p. Limitations of the Test
These findings are suggestive of 1p36 deletion precision of prenatal diagnosis with CVS or amniocentesis.
syndrome. A patient with a positive test result should be referred for genetic
1p36 deletion syndrome (monosomy 1p36 syndrome) is of test results.5 A negative test result does not ensure an unaffected
characterized by a deletion on the short arm of chromosome 1. pregnancy. While results of this testing are highly accurate, not
The disorder is characterized by dysmorphic craniofacial features, all chromosomal abnormalities may be detected due to placental,
developmental delay, brain abnormalities, short feet, congenital maternal or fetal mosaicism, or other causes. Sex chromosomal
heart defects, hypotonia, and brachy/camptodactyly. This aneuploidies are not reportable for known multiple gestations. The
condition is more common in females and incidence is health care provider is responsible for the use of this information in
~1 in 10,000. Recurrence risk depends on the origin of the the management of their patient.
deletion. In 20% of affected individuals, the deletion is inherited
from an unaffected parent. Most cases are not inherited Note
(de novo).1 This test was developed and its performance characteristics determined
Test Method under the Clinical Laboratory Improvement Amendments (CLIA) as
Circulating cell-free DNA was purified from the plasma component of qualified to perform high complexity clinical laboratory testing and
anti-coagulated maternal whole blood. It was then converted into a accredited by the College of American Pathologists.
13 representation and other chromosomal abnormalities including fetal References
chromosome 22, 16 and sex aneuploidies, X and Y representation, and 1. http://www.ncbi.nlm.nih.gov/books/NBK1191/.
subchromosomal copy number variants (microdeletions).2 2. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
aneuploidy.3,4,5
Confidence Interval
(95% CI)

Trisomy 21
Specificity: 99.9% 99.6–99.9%
Sensitivity: >99.9% 92.4–100.0%
Specificity: 99.6% 99.2–99.8%
Additional Findings: Increased

representation of chromosome 16. Limitations of the Test
These findings are suggestive of trisomy 16 precision of prenatal diagnosis with CVS or amniocentesis.
Full trisomy 16 is not compatible with life and is the most A patient with a positive test result should be referred for genetic
common cause of miscarriage. Mosaic trisomy 16 may present counseling and offered invasive prenatal diagnosis for confirmation
with intrauterine growth retardation, developmental delay, and of test results.6 A negative test result does not ensure an unaffected
congenital heart defects.1,2 pregnancy. While results of this testing are highly accurate, not
all chromosomal abnormalities may be detected due to placental,
maternal or fetal mosaicism, or other causes. Sex chromosomal
Test Method health care provider is responsible for the use of this information in
Circulating cell-free DNA was purified from the plasma component of the management of their patient.
genomic DNA library for the determination of chromosome 21, 18 and Note
13 representation and other chromosomal abnormalities including fetal This test was developed and its performance characteristics determined
chromosome 22, 16 and sex aneuploidies, X and Y representation, and by Sequenom CMM. It has not been cleared or approved by the U.S.
subchromosomal copy number variants (microdeletions).3 FDA. This test is used for clinical purposes. It should not be regarded
as investigational or for research. This laboratory is certified under the
About the Test Clinical Laboratory Improvement Amendments (CLIA) as qualified to
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted perform high complexity clinical laboratory testing and accredited by the
from a maternal blood sample. The test is indicated for use in pregnant College of American Pathologists.
data on twin pregnancies is limited and the ability of this test to detect References
aneuploidy in a triplet pregnancy has not been validated. 1. http://www.trisomy16.org.
2. http://ghr.nlm.nih.gov/chromosome/16.
xx/xx/2013
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
aneuploidy.3,4,5
material. Clinical correlation is Intended Use Performance
Confidence Interval
(95% CI)
Trisomy 21
Specificity: 99.9% 99.6–99.9%
Test Result for Y Chromosome Sensitivity: >99.9% 92.4–100.0%
Trisomy 18
Specificity: 99.6% 99.2–99.8%
No Y chromosomal
Consistent with a female fetus. Sensitivity: 91.7% 59.7–99.6%
material detected Trisomy 13
Specificity: 99.7% 99.3–99.9%
Additional Findings: Increased
representation of chromosome 22. Limitations of the Test
These findings are suggestive of trisomy 22 individuals. Cell-free fetal DNA does not replace the accuracy and
Full trisomy 22 is rarely compatible with life and most individuals A patient with a positive test result should be referred for genetic
die before birth or shortly after. Mosaic trisomy 22 may present counseling and offered invasive prenatal diagnosis for confirmation
with growth retardation, malformations of the head and face, of test results.6 A negative test result does not ensure an unaffected
cardiac abnormalities, and developmental delay.1,2 pregnancy. While results of this testing are highly accurate, not
Test Method aneuploidies are not reportable for known multiple gestations. The
Circulating cell-free DNA was purified from the plasma component of health care provider is responsible for the use of this information in
anti-coagulated maternal whole blood. It was then converted into a the management of their patient.
13 representation and other chromosomal abnormalities including fetal Note
chromosome 22, 16 and sex aneuploidies, X and Y representation, and This test was developed and its performance characteristics determined
subchromosomal copy number variants (microdeletions).3 by Sequenom Laboratories. It has not been cleared or approved by
About the Test regarded as investigational or for research. This laboratory is certified
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted under the Clinical Laboratory Improvement Amendments (CLIA) as
from a maternal blood sample. The test is indicated for use in pregnant qualified to perform high complexity clinical laboratory testing and
women with increased risk for chromosomal aneuploidy. Validation accredited by the College of American Pathologists.
data on twin pregnancies is limited and the ability of this test to detect
aneuploidy in a triplet pregnancy has not been validated. References
1. http://www.trisomy22.com.
2. http://rarediseases.info.nih.gov/gard/6085/mosaic-trisomy-22/resources/1.
xx/xx/2013
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
aneuploidy.1,2,3
Confidence Interval
(95% CI)

Trisomy 21
Specificity: 99.9% 99.6–99.9%
Sensitivity: >99.9% 92.4–100.0%
Specificity: 99.6% 99.2–99.8%

representation of the X chromosome. Limitations of the Test
These findings are suggestive of a 45,X chromosomal precision of prenatal diagnosis with CVS or amniocentesis.
aneuploidy, such as may be found in pregnancies with
Turner syndrome. counseling and offered invasive prenatal diagnosis for confirmation
pregnancy. While results of this testing are highly accurate, not
Lab Director Comments all chromosomal abnormalities may be detected due to placental,
Variable field for use by Lab director to convey important aneuploidies are not reportable for known multiple gestations. The
information about this particular sample. Variable field for use by health care provider is responsible for the use of this information in
Lab director to convey important information about this particular the management of their patient.
sample. Variable field for use by Lab director to convey
important information about this particular sample. Variable field Note
for use by Lab director to convey important information about
this particular sample. Variable field for use by Lab director to by Sequenom Laboratories. It has not been cleared or approved by
convey important information about this particular sample. the U.S. FDA. This test is used for clinical purposes. It should not be
Test Method qualified to perform high complexity clinical laboratory testing and
Circulating cell-free DNA was purified from the plasma component of accredited by the College of American Pathologists.
genomic DNA library for the determination of chromosome 21, 18 and References
13 representation and other chromosomal abnormalities including fetal 1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
chromosome 22, 16 and sex aneuploidies, X and Y representation, and 2. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
subchromosomal copy number variants (microdeletions).1 3. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
About the Test
from a maternal blood sample. The test is indicated for use in pregnant Laboratory Director, Sequenom Laboratories
women with increased risk for chromosomal aneuploidy. Validation xx/xx/2013
aneuploidy in a triplet pregnancy has not been validated.

Lab Report Sequenom Laboratories
7010 Kit Creek Road
Morrisville, NC 27560
CLIA# 34D2044309 CAP# 8666040
Date Received: 11/30/2012 Lab Director: Thomas J. Monroe, PhD
NOTE: OPT-OUT requested for subchromosomal Performance

copy number variants, chromosomes 22 and 16. The performance characteristics of the MaterniT21 PLUS laboratory-
study with pregnant women at increased risk for fetal chromosomal
Test Result for Chromosomes 21, 18 and 13 aneuploidy.1,2,3
Confidence Interval
This specimen showed an Intended Use Performance (95% CI)
expected representation of Sensitivity: 99.1% 96.3–99.8%
Trisomy 21
Specificity: 99.9% 99.6–99.9%
Sensitivity: >99.9% 92.4–100.1%
suggested. Trisomy 18
Specificity: 99.6% 99.2–99.8%
Sensitivity: 91.7% 59.7–99.6%
Specificity: 99.7% 99.3–99.9%
Y chromosomal Y chromosome Accuracy: 99.4% 99.1–99.6%
Consistent with a male fetus.
material detected
Limitations of the Test
Test Method DNA test results do not provide a definitive genetic risk in all
Circulating cell-free DNA was purified from the plasma component of anti- individuals. Cell-free fetal DNA does not replace the accuracy and
coagulated maternal whole blood. It was then converted into a genomic precision of prenatal diagnosis with CVS or amniocentesis.
DNA library for the determination of chromosome 21, 18, 13, X and Y A patient with a positive test result should be referred for genetic
representation and assessing for sex chromosome aneuploidies.1
About the Test of test results.4 A negative test result does not ensure an unaffected
pregnancy. While results of this testing are highly accurate, not
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted all chromosomal abnormalities may be detected due to placental,
from a maternal blood sample. The test is indicated for use in pregnant maternal or fetal mosaicism, or other causes. Sex chromosomal
aneuploidy in a triplet pregnancy has not been validated. health care provider is responsible for the use of this information in
the management of their patient.
Note
References
Thomas J. Monroe, PhD

xx/xx/2013
Lab Report

San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Performance
study with pregnant women at increased risk for fetal chromosomal
aneuploidy.1,2,3
Non-reportable Quantity of DNA not
sufficient
Confidence Interval
(95% CI)
Sensitivity: 99.1% 96.3–99.8%
Trisomy 21
Specificity: 99.9% 99.6–99.9%
Lab Director Comments Sensitivity: >99.9% 92.4–100.0%
Trisomy 18
Variable field for use by Lab director to convey important Specificity: 99.6% 99.2–99.8%
information about this particular sample. Variable field for use by
Sensitivity: 91.7% 59.7–99.6%
Lab director to convey important information about this particular Trisomy 13
sample. Variable field for use by Lab director to convey Specificity: 99.7% 99.3–99.9%
important information about this particular sample. Variable field Y chromosome Accuracy: 99.4% 99.0–99.6%
for use by Lab director to convey important information about
this particular sample. Variable field for use by Lab director to
convey important information about this particular sample. Limitations of the Test
Test Method individuals. Cell-free fetal DNA does not replace the accuracy and
anti-coagulated maternal whole blood. It was then converted into a A patient with a positive test result should be referred for genetic
genomic DNA library for the determination of chromosome 21, 18 and counseling and offered invasive prenatal diagnosis for confirmation
13 representation and other chromosomal abnormalities including fetal of test results.4 A negative test result does not ensure an unaffected
chromosome 22, 16 and sex aneuploidies, X and Y representation, and pregnancy. While results of this testing are highly accurate, not
About the Test maternal or fetal mosaicism, or other causes. Sex chromosomal
The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted health care provider is responsible for the use of this information in
from a maternal blood sample. The test is indicated for use in pregnant the management of their patient.
aneuploidy in a triplet pregnancy has not been validated.
Note
References
xx/xx/2013
ABOUT THE COMPANY ABOUT OUR TEST
Sequenom Laboratories, a wholly-owned The MaterniT21™ PLUSis a laboratory-developed test that wasdeveloped,
subsidiary of Sequenom, Inc., is a CAP- validated and are performed exclusively by Sequenom Laboratories.
accredited and CLIA-certified molecular
diagnostics laboratory dedicated to Laboratory-developed tests have not been cleared or approved by the
U.S. Food and Drug Administration (FDA). Although laboratory-developed
improving patient outcomes by offering
tests to date have not been subject to US FDA regulation, certification of
revolutionary laboratory-developed tests
the laboratory is required under CLIA to ensure the quality and validity of
for a variety of prenatal and eye conditions. the tests. Sequenom Laboratories, Mt. Sinai Genetic Testing Laboratory,
Sequenom Laboratories pioneered NIPT Quest Diagnostics, and CombiMatrix are certified under the Clinical
for fetal aneuploidies with the launch of its Laboratory Improvement Amendments (CLIA) as qualified to perform high
MaterniT21 PLUS test, and offers a full menu complexity clinical laboratory testing and accredited by the College of
American Pathologists (CAP).
of prenatal tests.
Sequenom®, MaterniT21™ PLUS, SensiGene®,

HerediT™ and NextView™ are trademarks
of Sequenom, Inc. and are used with
permission by Sequenom Center for
Molecular Medicine, LLC, dba Sequenom
Laboratories.
©2013 Sequenom Laboratories. All rights reserved.
36-20149R1.0 1013

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SAMPLE LAB REPORTS

FOR PRENATAL LABORATORY-DEVELOPED TESTING SERVICES

Noninvasive test for

suggested. Sensitivity: 99.1% 96.3–99.8%

Trisomy 21 Down syndrome. Expected

Y chromosomal Limitations of the Test

suggested. Sensitivity: 99.1% 96.3–99.8%

Additional Findings: Decreased

suggested. Sensitivity: 99.1% 96.3–99.8%

Additional Findings: Decreased

suggested. Sensitivity: 99.1% 96.3–99.8%

Additional Findings: Decreased

suggested. Sensitivity: 99.1% 96.3–99.8%

Additional Findings: Increased

suggested. Sensitivity: 99.1% 96.3–99.8%

Additional Findings: Decreased

NOTE: OPT-OUT requested for subchromosomal Performance

Thomas J. Monroe, PhD

Sequenom®, MaterniT21™ PLUS, SensiGene®,

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