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
Not provided.
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
Unknown CNV
Copy Number Region
LOINC Codes
- 53693-8 - GA Est from conception date
- 75605-6 - cfDNA.fet/cfDNA.total SFr Fetus
- 75980-3 - Fet 13+18+21+X+Y aneup Plas.cfDNA
- 72486-4 - Lab director name Provider
- 75983-7 - Fet Chr 21 Ts Plas.cfDNA Ql
- 75558-7 - Fet Ts 18 risk WBC.DNA+cfDNA Ql
- 73824-5 - Fet Ts 13 risk Plas.cfDNA Ql
- 75693-2 - Fet sex Plas.cfDNA Dosage cfDNA
- 75570-2 - Fet Ms X risk WBC.DNA+cfDNA Ql
- 79211-9 - Fet X + Y aneup risk Plas.cfDNA Seq-Imp
- 75578-5 - Fet 22q11.2 del risk WBC.DNA+cfDNA Ql
- 92903-4 - Fet Chr 15q11 Del Plas.cfDNA Ql
- 92899-4 - Fet Chr 11q23 Del Plas.cfDNA Ql
- 92902-6 - Fet Chr 8q24 Del Plas.cfDNA Ql
- 92900-0 - Fet Chr 4p16 Del Plas.cfDNA Ql
- 75602-3 - Fet 1p36 del risk WBC.DNA+cfDNA Ql
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 62364-5 - Test performance info Spec
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
Other tests from different labs that may be relevant