MaterniT21 Genome Add On Redraw
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.
Special Instructions
This test can only be ordered if MaterniT21 PLUS has been previously performed. Essential details required with the test request form include patient's date of birth, gestational age, pregnancy type (singleton), donor egg status, and clinical indications such as advanced maternal age or a history suggestive of aneuploidy. It is crucial to ensure that proper Sequenom collection kits are used for sample collection.
Limitations
Although highly accurate, the MaterniT Genome test results might be discordant due to factors like placental, maternal, or fetal mosaicism, vanishing twin, or previous maternal organ transplant. Sex chromosomal aneuploidies are not reportable for multiple gestations as the assay is not validated for multifetal gestations. This is a screening test only and not a diagnostic tool, thus cannot replace prenatal diagnosis methods like CVS or amniocentesis. A positive result should prompt genetic counseling and possibly an invasive prenatal diagnostic procedure for confirmation. The test does not detect neural tube or ventral wall defects, triploidy, or balanced rearrangements. Factors such as maternal BMI, systemic lupus erythematosus, and certain medications might impact result accuracy.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 92900-0
- 75602-3
- 75983-7
- 75558-7
- 73824-5
- 75693-2
- 75570-2
- 79211-9
- 75578-5
- 92903-4
- 92899-4
- 92902-6
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL
Minimum Volume
8 mL
Container
Black-and-tan-top (Streck) tube
Collection Instructions
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