Test Details
Methodology
Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)
Result Turnaround Time
28 days; in some cases, additional time may be required for confirmatory or reflex tests. If culture is needed, an additional 14-21 days may be required. Additional culture fee may be applied.
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Test Includes
This test includes the following genes: AARS1, ABHD12, ADAMTS2, AEBP1, AGA, AIFM1, ANO5, ARHGEF10, ARSA, ARSB, ASAH1, ATL1, ATL3, ATP13A2, ATP1A1, ATP7A, B3GALT6, B4GALT7, BAG3, BICD2, BSCL2, BVES, C1R, C1S, CACNA1S, CADM3, CAPN3, CAV3, CHCHD10, CHST14, CLCF1, CLN3, CLN5, CLN6, CLN8, CNTNAP1, COA7, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COX6A1, CRLF1, CRPPA, CTDP1, CTNS, CTSA, CTSD, CTSF, CTSK, DAG1, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DNAJB2, DNAJB6, DNAJC5, DNM2, DNMT1, DRP2, DSE, DST, DYNC1H1, DYSF, EGR2, ELP1, EMD, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKBP14, FKRP, FKTN, FLVCR1, FUCA1, GAA, GALC, GALNS, GAN, GARS1, GBA1, GBF1, GDAP1, GJB1, GLA, GLB1, GM2A, GMPPB, GNB4, GNE, GNPTAB, GNPTG, GNS, GRN, GUSB, HARS1, HEXA, HEXB, HGSNAT, HINT1, HK1, HNRNPDL, HSPB1, HSPB8, HTRA1, HYAL1, IDS, IDUA, IGHMBP2, INF2, JAG2, KARS1, KCNJ2, KCNJ5, KCTD7, KIF1A, KIF1B, KIF5A, LAMA2, LAMP2, LIPA, LITAF, LMBRD1, LMNA, LRRK2, LRSAM1, LYST, MAN2B1, MANBA, MARS1, MCM3AP, MCOLN1, MECP2, MED25, MEFV, MFN2, MFSD8, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MVK, MYH14, MYOT, NAGA, NAGLU, NDRG1, NEFH, NEFL, NEU1, NF2, NGF, NLRC4, NLRP3, NOTCH3, NPC1, NPC2, NTRK1, PDK3, PIEZO2, PLEC, PLEKHG5, PLOD1, PMP2, PMP22, PNKP, POGLUT1, POMGNT1, POMGNT2, POMT1, POMT2, POPDC3, PPT1, PRDM12, PRDM5, PRPS1, PRX, PSAP, PTRH2, RAB7A, REEP1, RETREG1, RYR1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SEPTIN9, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SGSH, SH3TC2, SIGMAR1, SLC12A6, SLC17A5, SLC25A46, SLC39A13, SLC5A7, SMPD1, SOD1, SORD, SPG11, SPTLC1, SPTLC2, STAC3, SUMF1, SURF1, SYNE1, SYNE2, TCAP, TECPR2, TFG, TMEM43, TNFRSF1A, TNPO3, TNXB, TOR1AIP1, TPP1, TRAPPC11, TRIM2, TRIM32, TRPA1, TRPV4, TSC1, TSC2, TTN, TTR, TUBB3, VCP, VPS16, VPS33A, VWA1, WARS1, WNK1, YARS1, ZFHX2 and ZNF469.
Use
This test is used for prenatal diagnosis for pregnancies at risk for any of the genes listed in the Test Includes section.
Special Instructions
All clients should call 844-664-8378 (844-MNGTEST) to speak with a genetic coordinator before collecting the specimen. The specific gene(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene(s) will result in testing delays. All fetal specimens, including cord blood, must be accompanied by a maternal blood, PurFlock buccal swab kit or Oragene Dx 500 saliva kit for maternal cell contamination (MCC). A separate requisition should be submitted with the maternal specimen.
Limitations
This assay does not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. Interpretation of the clinical significance of gene variations is limited by information about the variant available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen Requirements
Specimen
Amniotic fluid; chorionic villus sample (CVS); cultured cells or cord blood. Direct amniotic fluid or CVS specimen may be submitted; additional culture fee may be applied.
Volume
Amniotic fluid: 20 mL; CVS: 20mg; amniotic fluid and CVS culture: two confluent T-25 flasks; or cord blood: 4 mL (if amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures)
Minimum Volume
Amniotic fluid: 20 mL; CVS culture: 20mg; amniotic fluid and CVS culture: two confluent T-25 flasks; or cord blood: 3 mL (if amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures)
Container
Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask; cord blood: lavender-top (EDTA)
Collection Instructions
Standard sterile techniques; transfer aseptically to sterile tubes.
Amniotic fluid: Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.
Stability Requirements
Please ship expedited at room temperature.
Storage Instructions
Maintain specimen at room temperature. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 631148 | Neuro Single Gene, Fetal | 631207 | Extraction | N/A | ||
| 631148 | Neuro Single Gene, Fetal | 631208 | Billing Hold | N/A | ||
| 631148 | Neuro Single Gene, Fetal | 631209 | Result | 50397-9 | ||
| 631148 | Neuro Single Gene, Fetal | 631210 | Interpretation | 93364-8 | ||
| 631148 | Neuro Single Gene, Fetal | 631211 | Footnotes | 55752-0 | ||
| 631148 | Neuro Single Gene, Fetal | 631212 | 51969-4 | |||
| Order Code | 631148 | |||||
| Order Code Name | Neuro Single Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631207 | |||||
| Result Code Name | Extraction | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 631148 | |||||
| Order Code Name | Neuro Single Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631208 | |||||
| Result Code Name | Billing Hold | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 631148 | |||||
| Order Code Name | Neuro Single Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631209 | |||||
| Result Code Name | Result | |||||
| UofM | ||||||
| Result LOINC | 50397-9 | |||||
| Order Code | 631148 | |||||
| Order Code Name | Neuro Single Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631210 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 93364-8 | |||||
| Order Code | 631148 | |||||
| Order Code Name | Neuro Single Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631211 | |||||
| Result Code Name | Footnotes | |||||
| UofM | ||||||
| Result LOINC | 55752-0 | |||||
| Order Code | 631148 | |||||
| Order Code Name | Neuro Single Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631212 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 51969-4 |