MaterniT Genome
Test Code: 451941
Performing Lab: LabCorp
CPT Code: 81420 001 81422 001 81479 001
Specimen Type
Whole blood
Specimen Container
Black-and-tan-top (Streck) tube (whole blood). Sequenom collection kits are available, (PeopleSoft #116373 379551G-CS-LCA.SEQUENOM-LCA ONLY KIT EA=1/KIT and PeopleSoft #116374 549403G-CS-LCA.SEQUENOM-LCA TEST REG STICKERS ST=3/SET)
Volume
(1) 10 mL
Minimum Volume
8 mL
Specimen Handling
Only the Sequenom collection kit PS#116373 can be used for collection.
Unacceptable Conditions
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
Temperature
Room temperature. Do NOT refrigerate or freeze. Keep out of direct sunlight. Samples must be shipped to LabCorp in a Sequenom collection kit.
Methodology
Cell-free DNA is isolated from the sample and analyzed using massively parallel sequencing technology.
TAT
5 - 7 days
| Result Code | Result Name | LOINC |
|---|---|---|
| 452182 | Gestation | 53693-8 |
| 452183 | Fetal Fraction | 75605-6 |
| 452184 | Gestational Age > or = 9w: | UNLOINC |
| 451942 | Test Result | 75980-3 |
| 821814 | Lab Director Comments | 72486-4 |
| 821815 | Approved By | 72486-4 |
| 452177 | Trisomy 21 (Down Syndrome) | 75983-7 |
| 452178 | Trisomy 18 (Edwards Syndrome) | 75558-7 |
| 452179 | Trisomy 13 (Patau Syndrome) | 73824-5 |
| 452157 | Other autosomal aneuploidies | UNLOINC |
| 452180 | Fetal Sex | 75693-2 |
| 452158 | Monosomy X (Turner Syndrome) | 75570-2 |
| 452159 | XYY (Jacobs Syndrome) | 79211-9 |
| 452160 | XXY (Klinefelter Syndrome) | 79211-9 |
| 452161 | XXX (Triple X Syndrome) | 79211-9 |
| 452163 | Gains/Losses >=7 Mb | UNLOINC |
| 452164 | 22q11 deletion (DiGeorge) | 75578-5 |
| 452165 | 15q11 deletion (PW Angelman) | 92903-4 |
| 452166 | 11q23 deletion (Jacobsen) | 92899-4 |
| 452167 | 8q24 deletion (Langer-Giedion) | 92902-6 |
| 452168 | 5p15 deletion (Cri-du-chat) | UNLOINC |
| 452169 | 4p16 deletion(Wolf-Hirschhorn) | 92900-0 |
| 452170 | 1p36 deletion syndrome | 75602-3 |
| 452171 | Positive Predictive Value | UNLOINC |
| 821817 | About the Test | 77202-0 |
| 821816 | Test Method | 49549-9 |
| 821818 | Performance | 62364-5 |
| 452181 | Performance Characteristics | UNLOINC |
| 821822 | Limitations of the Test | UNLOINC |
| 821823 | Note | 8251-1 |
| 821824 | References | 75608-0 |
| 821825 | 51969-4 |
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