LabCorp and its Specialty Testing Group, a fully integrated portfolio of specialty and esoteric testing laboratories.

MaterniT GENOME

CPT:
81420; 81422; 81479

The MaterniT GENOME test provides karyotype-level insight, 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.

Test Details

Use

The MaterniT GENOME test provides karyotype-level insight, 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.

Methodology

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

Turnaround Time

5 days

Pregnancy Week

0–13 Weeks
14–21 Weeks
22+ Weeks

Specimen Requirements

Specimen

Whole blood

Volume

(2) 10 mL

Minimum Volume

8 mL

Container

Black-and-tan-top (Streck) tube (whole blood). Sequenom collection kits are available.

Collection

Only the Sequenom collection kit can be used for collection.

Special Instructions

The following information must be provided with the test request form: patient's date of birth, gestational age, additional patient demographic information:pregnancy type (singleton or multiple), 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).

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

Storage Instructions

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

Additional Information

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.  Cell-free DNA (cfDNA) testing does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis.
A patient with a positive or high risk score test result should be referred for genetic counseling and tests are not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. cfDNA 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 minor or no clinical significance.

Evaluating the significance of a positive or non-reportable test result may involve both invasive prenatal testing and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant maternal neoplasms. cfDNA testing may not
accurately identify fetal triploidy, balanced rearrangements, or the precise locations of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal body mass index (BMI), maternal weight, and/or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should be discussed with a qualified health care provider.  Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of this test alone.

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

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