MaterniT Genome

CPT: 81420; 81422; 81479
Updated on 10/30/2019
Print Share

Special Instructions

The following information must be provided with the test request form: patient's date of birth, gestational age, and additional patient demographic information: pregnancy type (singleton), donor egg status and the clinical indications (including advanced maternal age, abnormal ultrasound, history suggestive of increased risk for aneuploidy, positive serum screen, or other indications).


Expected Turnaround Time

5 - 7 days



Specimen Requirements


Specimen

Whole blood


Volume

(1) 10 mL

(2) 10 mL

(1) 10 mL


Minimum Volume

8 mL


Container

Black-and-tan-top (Streck) tube (whole blood). Sequenom collection kits are available (PeopleSoft No. 116373 379551G-CS-LCA.SEQUENOM-LCA.SEQUENOM-LCA ONLY KIT EA=1/KIT and PeopleSoft No. 116374 549403G-CS-LCA.SEQUENOM-LCA TEST REG STICKERS ST=3/SET).


Collection

Only the Sequenom collection kit (PeopleSoft No. 116373) can be used for collection.


Storage Instructions

Room temperature. Do not refrigerate or freeze. Keep out of direct sunlight. Samples must be shipped to LabCorp in a Sequenom collection kit.


Causes for Rejection

Gestational age less than nine weeks; expired or incorrect blood tubes (including nonglass tubes); quantity not sufficient for analysis; received more than seven days from collections; excessive hemolysis; frozen specimens


Test Details


Use

The MaterniT Genome test provides comprehensive chromosome copy number analysis including unbalanced derivatives and, information about deletions or duplications of chromosome material 7 Mb or larger, as well as analysis of seven clinically relevant microdeletions less than 7 Mb in size.


Limitations

While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. MaterniT Genome assay is not validated for multifetal gestations; multifetal samples are excluded from the resequencing pathway. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results. A negative result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosome or subchromosomal abnormalities, which on occasion may be associated with benign or malignant maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; there may be detected by prenatal diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low molecular weight heparin (for example: Lovenox®, Xaparin®, Clexane®, and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider. Pregnancy managment decisions, including termination of pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the management of their patient.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).


Methodology

Cell-free DNA is isolated from the sample and analyzed using massively parallel sequencing technology.


References

American College of Obstetricians and Gynecologists. Profile of Ob-Gyn Practice. ACOG Web site: http://www.acog.org/~/media/ Departments/Practice/ProfileofOb-gynPractice1991-2003.pdf? dmc=1&ts=20140216T0236326521. Accessed April 29, 2016.
Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012 May;119(5):890-901.22362253
Canick JA, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 Aug;32(8):730-734.22585317
Danielsson K. Trisomy 22 Types and the Link to Miscarriage. Very Well Family Web site: https://www.verywell.com/trisomy-22-and-miscarriage-2371299. Published April 2016. Accessed April 27, 2016. Updated October 30, 2018.
Disorders of Chromosome 16 Foundation. A Brief (and Basic) Overview of Chromosome 16 Disorders. Disorders of Chromosome 16 Foundation Web site: http://www.trisomy16.org/about/what_are_doc16.html. Published 2011. Accessed April 27, 2016.
Helgeson J, Wardrop J, Boomer T, et al. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat Diagn. 2015 Oct;35(10):999-1004.26088833
Mazloom AR, Dzakula Z, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013 Jun;33(6):591-597.23592550
Norton ME, Brar H, Weiss J, et al. Non-invasive chromosomal evaluation (NICE) study: results of a multicenter, prospective, study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-e8.22742782
Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study. Genet Med. 2012 Mar;14(3):296-305.22281937
Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011 Nov;13(11):913-920.22005709
Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-218.25004354
US National Library of Medicine. Angelman syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/angelman-syndrome#statistics. Published May 2015. Accessed April 27, 2016.
US National Library of Medicine. Cri-du-chat syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#statistics. Published February 2014. Accessed April 27, 2016.
US National Library of Medicine. Down syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/down-syndrome# statistics. Published June 2012. Accessed April 27, 2016.
US National Library of Medicine. Jacobsen syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/jacobsen-syndrome#statistics. Published September 2015. Accessed April 27, 2016.
US National Library of Medicine. Klinefelter syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/klinefelter-syndrome#statistics. Published January 2013. Accessed April 27, 2016.
US National Library of Medicine. Prader-Willi syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/prader-willi-syndrome#statistics. Published June 2014. Accessed April 27, 2016.
US National Library of Medicine. Trichorhinophalangeal syndrome type II. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/langer-giedion-syndrome#statistics. Published February 2009. Accessed April 27, 2016.
US National Library of Medicine. Triple X syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/triple-x-syndrome#statistics. Published June 2014. Accessed April 27, 2016.
US National Library of Medicine. Trisomy 13. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/trisomy-13# statistics. Published November 2013. Accessed April 27, 2016.
US National Library of Medicine. Trisomy 18. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/trisomy-18# statistics. Published March 2012. Accessed April 27, 2016.
US National Library of Medicine. Turner syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/turner-syndrome#statistics. Published January 2012. Accessed April 27, 2016.
US National Library of Medicine. Wolf-Hirschhorn syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome#statistics. Published April 2012. Accessed April 27, 2016.
US National Library of Medicine. 1p36 deletion syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome#statistics. Published January 2014. Accessed April 27, 2016.
US National Library of Medicine. 22q11.2 deletion syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#statistics. Published July 2013. Accessed April 27, 2016.
US National Library of Medicine. 47,XYY syndrome. Genetics Home Reference: Your Guide to Understanding Genetic Conditions Web site: https://ghr.nlm.nih.gov/condition/47xyy-syndrome#statistics. Published January 2009. Accessed April 27, 2016.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451941 MaterniT Genome 451942 Result 75980-3
451941 MaterniT Genome 821814 Lab Director Comments 75605-6
451941 MaterniT Genome 821815 Approved By 72486-4
451941 MaterniT Genome 452177 Trisomy 21 Pending
451941 MaterniT Genome 452178 Trisomy 18 Pending
451941 MaterniT Genome 452179 Trisomy 13 Pending
451941 MaterniT Genome 452157 Other autosomal aneuploidies Pending
451941 MaterniT Genome 452180 Fetal Sex Pending
451941 MaterniT Genome 452158 Monosomy X (Turner Syndrome) Pending
451941 MaterniT Genome 452159 XYY (Jacobs Syndrome) Pending
451941 MaterniT Genome 452160 XXY (Klinefelter Syndrome) Pending
451941 MaterniT Genome 452161 XXX (Triple X Syndrome) Pending
451941 MaterniT Genome 452163 Gains/Losses >=7 Mb Pending
451941 MaterniT Genome 452164 22q11 deletion (DiGeorge) Pending
451941 MaterniT Genome 452165 15q11 deletion (PW Angelman) Pending
451941 MaterniT Genome 452166 11q23 deletion (Jacobsen) Pending
451941 MaterniT Genome 452167 8q24 deletion (Langer-Giedion) Pending
451941 MaterniT Genome 452168 5p15 deletion (Cri-du-chat) Pending
451941 MaterniT Genome 452169 4p16 deletion(Wolf-Hirschhorn) Pending
451941 MaterniT Genome 452170 1p36 deletion syndrome Pending
451941 MaterniT Genome 452171 Positive Predictive Value Pending
451941 MaterniT Genome 821817 About the Test 77202-0
451941 MaterniT Genome 821816 Test Method 49549-9
451941 MaterniT Genome 821818 Performance 62364-5
451941 MaterniT Genome 452181 Performance Characteristics Pending
451941 MaterniT Genome 821822 Limitations of the Test N/A
451941 MaterniT Genome 821823 Note N/A
451941 MaterniT Genome 821824 References 75608-0
451941 MaterniT Genome 821825 PDF 51969-4

For Providers

Please login to order a test.

 

© 2019  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf