GeneSeq® Connective Tissue: Ehlers-Danlos Syndrome Panel
CPT:
81408(x2); 81479
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81408(x2); 81479 |
Synonyms
Connective tissue disease
Test Includes
This test includes the following genes: ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB and ZNF469.
Expected 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.
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
Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Stability Requirements
• Room temperature: whole blood: 14 days; swab: 60 days
• Refrigerated: whole blood: 30 days; swab: 60 days
• Frozen: do not freeze
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Test Details
Use
Diagnostic testing
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.
Methodology
Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)
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CPT Statement/Profile Statement
The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf