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New Tests 2 Test Updates 4 CPT Code Updates 11 Deleted Tests 11 Diagnostics Update Volume XXI, No Volume XXI, No. 6 JUNE 2021 MONTHLY TEST UPDATES Diagnostics Update New Tests 2 Test Updates 4 CPT Code Updates 11 Deleted Tests 11 Diagnostics Update Volume XXI, No. 6 | JUNE 2021 New Tests Use Anti-DFS70 antibodies may help identify individuals who do not have an Anti-Carbamylated Protein (CarP) Antibody 520311 ANA-associated Autoimmune Rheumatic Disease (AARD) especially in the absence of significant clinical findings.1 Anti-DFS70 Ab, especially when positive CPT 83516 in isolation (i.e. in the absence of AARD-associated autoantibodies), may Synonyms Anti-CarP antigen antibody; RA marker prevent unnecessary referrals and examinations of ANA-positive individuals.2 Special Instructions This test has not been approved for NY state clients. Limitations This test should be used with clinical findings and other Specimen Serum autoimmune testing; it cannot be used alone to rule out autoimmune disease. Volume 1 mL This test was developed and its performance characteristics determined Minimum Volume 0.5 mL by Labcorp. It has not been cleared or approved by the Food and Drug Container Red-top tube; serum from red-top tube; serum from a gel tube; or Administration. serum gel tube Methodology Enzyme-linked immunosorbent assay (ELISA) Collection Separate serum from cells within one hour of collection. Transfer to a Additional Information Anti-DFS70 antibodies target the dense fine speckled plastic transport tube before shipping. protein of 70 kDa which is identical to Lens Epithelium-Derived Growth Factor Storage Instructions Refrigerate or freeze. or transcription co-activator p75 (LEDGFp75). They are detectable in 2% to 22% Stability of healthy individuals and in less than 1% of patients with AARD are of unknown Temperature Period clinical significance. Room temperature 14 days Footnotes 1. Conrad K, Röber N, Andrade LEC, Mahler M. The Clinical Relevance of Anti-DFS70 Refrigerated 14 days Autoantibodies. Clin Rev Allergy Immunol. 2017 Apr;52(2):202-216. PubMed 27350273 Frozen 14 days 2. Fitch-Rogalsky C, Steber W, Mahler M, et al. Clinical and Serological Features of Patients Referred through a Rheumatology Triage System because of Positive Antinuclear Freeze/thaw cycles Stable x3 Antibodies. PLoS One. 2014 Apr 4;9(4):e93812. PubMed 24705829 Use Anti-CarP antibodies may be positive in about 10% of early RA patients who are RF-negative and anti-CCP-negative and may be present years before the onset of RA symptoms.1,2 Anti-CarP is associated with more active disease and higher risk of developing joint erosions.1 Anti-CarP levels especially in Beta Amyloid 42/40 Ratio, CSF 505505 combination with RF- and Anti-CCP-positivity may predict joint erosion and CPT To be determined. Updates will be made when available. radiographic progression.1 Special Instructions This test is not approved for NY state clients. Limitations This test was developed and its performance characteristics Specimen Cerebrospinal fluid (CSF) determined by Labcorp. It has not been cleared or approved by the Food and Volume 8 mL Drug Administration. Minimum Volume 5 mL Methodology Enzyme-linked immunosorbent assay (ELISA) Container Sarstedt CSF Tube 62.610.018. Tube provided by Labcorp by request. Footnotes Collection Collect cerebral spinal fluid (CSF) in Sarstedt CSF Tube 62.610.018. 1. Truchetet ME, Dublanc S, Barnetche T, et al. Association of the Presence of Anti- Tube must be filled 50% to 80% minimum. Carbamylated Protein Antibodies in Early Arthritis With a Poorer Clinical and Radiologic Storage Instructions Refrigerate immediately (preferred), within 8 hours. Outcome: Data From the French ESPOIR Cohort. Arthritis Rheumatol. 2017 Dec;69(12):2292- Stability 2302. PubMed 28853240 2. Brink M, Verheul MK, Rönnelid J, et al. Anti-carbamylated protein antibodies in the pre- Temperature Period symptomatic phase of rheumatoid arthritis, their relationship with multiple anti-citrulline Room temperature 8 hours peptide antibodies and association with radiological damage. Arthritis Res Ther. 2015 Feb 7;17(1):25. PubMed 25889922 Refrigerated 8 days Frozen 30 days Freeze/thaw cycles Stable x1 Anti-Dense Fine Speckled Protein 70 kDa (DFS70) Ab 520313 Causes for Rejection Wrong tube type; not stored at proper temperature; CPT 83516 quantity not sufficient Synonyms Anti-dense fine speckled; DFS70/LEDGFp75; LEDGFp75; Lens Use To indicate the ratio of beta-amyloid 42 proteins to beta-amyloid 40 proteins Epithelium-derived Growth Factor or transcription co-activator p75; SARD measured in the CSF to aid in the assessment of disease progression in patients exclusion marker with suspected or probable Alzheimer’s disease. Special Instructions This test has not been approved for NY state clients. Methodology Chemiluminescent enzyme immunoassay (CLEIA) Specimen Serum Volume 1 mL Minimum Volume 0.5 mL Container Red-top tube; serum from red-top tube; serum from a gel tube; or Clinical Epilepsy NGS Panel 630550 serum gel tube CPT 81419 Collection Separate serum from cells within one hour of collection. Transfer to a Test Includes This test includes: ALDH7A1, AMT, ARHGEF9, ATP1A2, CACNA1A, plastic transport tube before shipping. CDKL5, CHD2, CNTNAP2, DNM1, DOCK7, FOLR1, GABRA1, GABRG2, GLRA1, Storage Instructions Refrigerate or freeze. GRIN2A, GRIN2B, KCNQ2, KCNQ3, KCNT1, MECP2, MEF2C, PCDH19, PNKP, PNPO, Stability POLG, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC46A1, SLC9A6, SPTAN1, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TCF4, TPP1, TSC1, TSC2, Temperature Period ZEB2. Room temperature 14 days Special Instructions This assay currently is not available in New York state. Refrigerated 14 days Contact a Labcorp genetics coordinator at 800-345-GENE (4363) with any Frozen 14 days questions. Expected Turnaround Time 28 days Freeze/thaw cycles Stable x3 Specimen Whole blood, buccal swab, extracted DNA (from blood or buccal only) 2 Diagnostics Update Volume XXI, No. 6 | JUNE 2021 New Tests Volume 4 mL, 1 swab, or 200 ng of DNA clinician’s request to allow potential reinterpretation based on new research or Container Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, evidence. GnomAD abbreviations for population frequency data: African/African extracted DNA American (AFR), Latino (AMR), Ashkenazi Jewish (ASJ), East Asian (EAS), Finnish Storage Instructions Blood: Ship ASAP, but stable up to 5 days post-collection (FIN), Non-Finnish European (NFE), South Asian (SAS), Other (OTH). at room temperature. Do not freeze. Swab: 60 day post-collection at room Footnotes temperature. DNA: Ship at room temperature after extraction. 1. Nackley AG, Shabalina SA, Tchivileva IE, et al. Human catechol-O-methyltransferase Stability haplotypes modulate protein expression by altering mRNA secondary structure. Science. • Room temperature: Blood: 5 days; Swab: 60 days; DNA: 30 days 2006 Dec 22;314(5807):1930-1933. PubMed 17185601 2. Richards S, Nazneen A, Bale S, et al. Standards and guidelines for the interpretation of • Refrigerated: Blood: 5 days; Swab: 60 days; DNA: 30 days sequence variants: a joint consensus recommendation of the American College of Medical • Frozen: Blood: Do not freeze; Swab: 60 days; DNA: Indefinitely Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 Causes for Rejection Frozen blood EDTA tube; insufficient swab cell collection May;17(5):405-424. PubMed 25741868 or incorrect oral swab device use; extracted DNA A260:A280 ratio outside of 1.8-2.0 range Use Diagnostic testing Limitations This assay will not consistently detect germline mosaicism below Drug Screen 8 With Reflex Confirmation (AMP,COC,THC,OPI, 50% or rule out the presence of large chromosomal aberrations, including OXY,MD,BUP,FENT), Meconium 809517 rearrangements and inversions that do not change copy number of genomic CPT 80307 regions. The assay does not detect repeat expansions. Possible intergenic Expected Turnaround Time 3 - 6 days variant interactions are not commented on. False positive or false negative Specimen Meconium results may occur for reasons that include: insufficient information available Volume 5 grams about rare genetic variants, sex chromosome abnormalities, pseudogene Minimum Volume 1 gram interference, homologous regions, blood transfusions, bone marrow Container Meconium Collection Kit (PeopleSoft No. 96663), or clean, leakproof transplantation, somatic or tissue-specific mosaicism, mislabeled samples, polypropylene container or erroneous representation of family relationships. Variants that do not Collection Specimens from different voidings may be pooled if necessary. For alter an amino acid composition of a protein may be difficult to assess for step-by-step instructions for collecting and preparing meconium specimens, pathogenicity since they may produce abnormalities in structures not assessed see Meconium Testing Collection Instructions. by conventional analysis paradigms, eg, mRNA expression and processing.1 Storage Instructions Submission/transport (<3 days): Room temperature. For mitochondrial DNA variants, low levels of heteroplasmy (<1%) may not be For storage beyond three days, specimen should be refrigerated or frozen. reliably detected by this technique. Mitochondrial variants may be tissue- Use Detect fetal exposure to controlled substances specific. Interpretation of the clinical significance of gene variations is limited by Methodology Initial presumptive testing by immunoassay at the following information about the variant that is available at the time of reporting, and by testing thresholds: amphetamines, 100 ng/gm; buprenorphine,
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