MaterniT Genome
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
Patient's date of birth, gestational age, pregnancy type, donor egg status, and clinical indications (including advanced maternal age, abnormal ultrasound) must be provided with the test request. Only the Sequenom collection kit can be used for specimen collection, and samples must be shipped to LabCorp in this kit. Testing is not intended for multiple gestations, and pregnancy management decisions should not be based solely on this test's results.
Limitations
The results, while highly accurate, may be discordant due to factors such as placental, maternal, or fetal mosaicism, vanishing twin, or organ transplant history. Sex chromosomal aneuploidies are not reportable for multiples. This assay is not validated for multifetal gestations. It is a screening, not diagnostic test, and does not replace prenatal diagnosis via CVS or amniocentesis. Positive results require referral for genetic counseling and invasive confirmation. The test doesn't rule out all chromosomal abnormalities or birth defects. Results may be uninformative due to technical issues like low coverage or bias. External factors like maternal BMI and medications may impact the test. The test does not identify neural or ventral wall defects, balanced rearrangements, or exact locations of abnormalities.
Methodology
NGS
Biomarkers
LOINC Codes
- 53693-8
- 75605-6
- 75980-3
- 72486-4
- 75983-7
- 75558-7
- 73824-5
- 75693-2
- 75570-2
- 79211-9
- 75578-5
- 92903-4
- 92899-4
- 92902-6
- 92900-0
- 75602-3
- 77202-0
- 49549-9
- 62364-5
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.
Causes for Rejection
Gestational age less than nine weeks; expired or incorrect blood tubes; quantity not sufficient; received more than seven days from collection; excessive hemolysis; frozen specimens