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GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel

CPT

81448

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.

Related Information

PMP22 MLPA Deletion/Duplication Analysis

PMP22 Full Gene Sequencing (no CNV)

Test Includes

This test includes the following genes: AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CHCHD10, CNTNAP1, COA7, COX6A1, CTDP1, DCAF8, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS1, GBF1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MYH14, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, REEP1, SACS, SBF1, SBF2, SCO2, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SORD, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, TTR, TUBB3, VCP, VWA1, WARS1 and YARS1.
 

Use

Diagnostic testing

Special Instructions

Contact a Labcorp genetics coordinator at 844-664-8378 (844-MNGTEST) with any questions.

Limitations

This assay will 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/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is 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 or extracted DNA (from blood or oral swab only)

Volume

Whole blood: 4 mL; oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Minimum Volume

Whole blood: 2 mL; oral swab: 1 swab; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Container

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Collection Instructions

Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Stability Requirements

Room temperature: whole blood: 14 days; swab: 60 days

Refrigerated: whole blood: 30 days; swab: 60 days

Frozen: do not freeze

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
630732 Charcot-Marie-Tooth Disease 51969-4 630733 Result 69548-6
630732 Charcot-Marie-Tooth Disease 51969-4 630734 Interpretation 50397-9
630732 Charcot-Marie-Tooth Disease 51969-4 630735 Footnotes 8251-1
630732 Charcot-Marie-Tooth Disease 51969-4 630736 PDF Image 11502-2
Order Code630732
Order Code NameCharcot-Marie-Tooth Disease
Order Loinc51969-4
Result Code630733
Result Code NameResult
UofM
Result LOINC69548-6
Order Code630732
Order Code NameCharcot-Marie-Tooth Disease
Order Loinc51969-4
Result Code630734
Result Code NameInterpretation
UofM
Result LOINC50397-9
Order Code630732
Order Code NameCharcot-Marie-Tooth Disease
Order Loinc51969-4
Result Code630735
Result Code NameFootnotes
UofM
Result LOINC8251-1
Order Code630732
Order Code NameCharcot-Marie-Tooth Disease
Order Loinc51969-4
Result Code630736
Result Code NamePDF Image
UofM
Result LOINC11502-2