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
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, AIFM1, ANO5, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, BVES, CACNA1S, CADM3, CAPN3, CAV3, CHCHD10, CLCF1, CNTNAP1, COA7, COL6A1, COL6A2, COL6A3, COX6A1, CRLF1, CRPPA, CTDP1, DAG1, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DNAJB2, DNAJB6, DNM2, DNMT1, DRP2, DST, DYNC1H1, DYSF, EGR2, ELP1, EMD, FBLN5, FBXO38, FGD4, FHL1, FIG4, FKRP, FKTN, FLVCR1, GAA, GAN, GARS1, GBF1, GDAP1, GJB1, GMPPB, GNB4, HARS1, HINT1, HK1, HNRNPDL, HSPB1, HSPB8, HTRA1, IGHMBP2, INF2, JAG2, KARS1, KCNJ2, KCNJ5, KIF1A, KIF1B, KIF5A, LAMA2, LITAF, LMNA, LRRK2, LRSAM1, MARS1, MCM3AP, MECP2, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MYH14, MYOT, NAGLU, NDRG1, NEFH, NEFL, NF2, NGF, NOTCH3, NTRK1, PDK3, PIEZO2, PLEC, PLEKHG5, PMP2, PMP22, PNKP, POGLUT1, POMGNT1, POMGNT2, POMT1, POMT2, POPDC3, PRDM12, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, RYR1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SEPTIN9, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SOD1, SORD, SPG11, SPTLC1, SPTLC2, STAC3, SURF1, SYNE1, SYNE2, TCAP, TECPR2,TFG, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM2, TRIM32, TRPA1, TRPV4, TSC1, TSC2, TTN, TTR, TUBB3, VCP, VWA1, WARS1, WNK1, YARS1 and ZFHX2.
Special Instructions
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.
Contact a Labcorp genetics coordinator at 844-664-8378 (844-MNGTEST) with any questions.
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
Whole blood, oral swab, extracted DNA (from blood or oral swab only)
Volume
Whole blood: 4 mL; oral swab: 3 swabs; extracted DNA: contact MNG Genetic Services at 844-664-8378 (844-MNGTEST)
Minimum Volume
Whole blood: 2 mL; oral swab: 1 swab; extracted DNA: contact MNG Genetic Services at 844-664-8378 (844-MNGTEST)
Container
Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; extracted DNA: contact MNG Genetic Services at 844-664-8378 (844-MNGTEST)
Collection Instructions
Whole blood: standard phlebotomy; oral swab: follow kit instructions; extracted DNA: contact MNG Genetic Services at 844-664-8378 (844-MNGTEST)
Stability Requirements
Whole blood: 14 days; swab: 60 days
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. 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 |
|---|---|---|---|---|---|---|
| 631160 | Neuro Single Gene | 631161 | Billing Hold | N/A | ||
| 631160 | Neuro Single Gene | 631162 | Result | 50397-9 | ||
| 631160 | Neuro Single Gene | 631163 | Interpretation | 93364-8 | ||
| 631160 | Neuro Single Gene | 631164 | Footnotes | 55752-0 | ||
| 631160 | Neuro Single Gene | 631165 | 51969-4 | |||
| Order Code | 631160 | |||||
| Order Code Name | Neuro Single Gene | |||||
| Order Loinc | ||||||
| Result Code | 631161 | |||||
| Result Code Name | Billing Hold | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 631160 | |||||
| Order Code Name | Neuro Single Gene | |||||
| Order Loinc | ||||||
| Result Code | 631162 | |||||
| Result Code Name | Result | |||||
| UofM | ||||||
| Result LOINC | 50397-9 | |||||
| Order Code | 631160 | |||||
| Order Code Name | Neuro Single Gene | |||||
| Order Loinc | ||||||
| Result Code | 631163 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 93364-8 | |||||
| Order Code | 631160 | |||||
| Order Code Name | Neuro Single Gene | |||||
| Order Loinc | ||||||
| Result Code | 631164 | |||||
| Result Code Name | Footnotes | |||||
| UofM | ||||||
| Result LOINC | 55752-0 | |||||
| Order Code | 631160 | |||||
| Order Code Name | Neuro Single Gene | |||||
| Order Loinc | ||||||
| Result Code | 631165 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 51969-4 |