Test Details
Methodology
Next-generation sequencing: identifies genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Fragile X syndrome: cytosine-guanine-guanine (CGG) triplet repeats in the 5' untranslated region (5' UTR) of the FMR1 gene are detected by triplet repeat-primed PCR (RP-PCR) with fluorescently labeled primers followed by capillary electrophoresis.
Confirmation of the presence and location of reportable variants is performed as needed based on stringent criteria using one of several validated orthogonal approaches.1
Result Turnaround Time
10 - 21 days
In some cases, additional time may be required for confirmatory or reflex tests.
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: ABCA3, ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGA, AGXT, AHI1, AIRE, ALDOB, ALPL, ANO10, ARSA, ARX, ASL, ASPA, ATP7B, BBS1, BBS2, BCKDHB, BLM, BTD, CBS, CC2D2A, CCDC88C, CEP290, CFTR, CHRNE, CLCN1, CLRN1, CNGB3, COL7A1, CPT2, CYP11A1, CYP21A2, CYP27A1, CYP27B1, DHCR7, DHDDS, DLD, DMD, DYNC2H1, ELP1, ERCC2, EVC2, F9, FAH, FANCC, FKRP, FKTN, FMO3, FMR1, G6PC1 (G6PC), GAA, GALT, GBA1 (GBA), GBE1, GJB2, GLA, GNPTAB, GRIP1, HBA1, HBA2, HBB, HEXA, HPS1, HPS3, IDUA, L1CAM, LRP2, MCCC2, MCOLN1, MCPH1, MID1, MLC1, MMACHC, MMUT (MUT), MVK, NAGA, NEB, NPHS1, NR0B1, OCA2, OTC, PAH, PCDH15, PKHD1, PLP1, PMM2, POLG, PRF1, RARS2, RNASEH2B, RPGR, RS1, SCO2, SLC19A3, SLC26A2, SLC26A4, SLC37A4, SLC6A8, SMN1, SMPD1, TF, TMEM216, TNXB, TYR, USH2A and XPC.
Use
This test is used for pan-ethnic carrier screening and includes 110 of the genes included in the American College of Medical Genetics (ACMG) Tier 3 category.
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
The genes BCHE, F2,F5, F11, G6PD, GP1BA, GP9, HFE, HGD, TFR2 and SERPINA1 are available as an add-on panel that can be ordered at the same time as the primary panel. Genes in the add-on panel do not meet the criteria for primary carrier screening and should be considered in the context of individual patient testing.
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations, including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.
Variant classification and/or interpretation may change over time if more information becomes available. Updated classifications are available upon request. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.
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 or Oragene Dx 500 saliva kit
Volume
4 mL whole blood or Oragene Dx saliva kit
Minimum Volume
3 mL whole blood or Oragene Dx saliva kit
Container
Lavender-top (EDTA) tube or Oragene Dx 500 Saliva Collection Kit
Collection Instructions
Standard phlebotomy; follow Oragene Dx 500 Saliva Collection Kit instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Stability Requirements
- Whole blood: 90 days at room temperature or 4°C
- Saliva: 60 days at room temperature
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 or in improper container; specimen from an individual who has undergone allogeneic bone marrow transplant
References
Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10)1793-1806. PubMed 34285390
Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024 Jul;26(7):101137. PubMed 38814327
Footnotes
- Lincoln SE, Truty R, Lin CF, et al. A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing. J Mol Diagn. 2019 Mar;21(2):318-329. PubMed 30610921
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 898100 | High Frequency Carrier Panel | 898082 | Corrected/Amended Comments | 91582-7 | ||
| 898100 | High Frequency Carrier Panel | 898273 | Additional Information | 55752-0 | ||
| 898100 | High Frequency Carrier Panel | 898912 | Result | 51968-6 | ||
| 898100 | High Frequency Carrier Panel | 898087 | Summary | N/A | ||
| 898100 | High Frequency Carrier Panel | 898089 | Clinical Summary | N/A | ||
| 898100 | High Frequency Carrier Panel | 898088 | Clinical Comments | N/A | ||
| 898100 | High Frequency Carrier Panel | 898085 | Inheritance | N/A | ||
| 898100 | High Frequency Carrier Panel | 898086 | Partner Testing Recommended | 77202-0 | ||
| 898100 | High Frequency Carrier Panel | 898090 | Results to Note | 106173-8 | ||
| 898100 | High Frequency Carrier Panel | 898279 | Next Steps | 107556-3 | ||
| 898100 | High Frequency Carrier Panel | 898091 | Variant Details | 82939-0 | ||
| 898100 | High Frequency Carrier Panel | 898084 | About Test | N/A | ||
| 898100 | High Frequency Carrier Panel | 898092 | Genes Analyzed | N/A | ||
| 898100 | High Frequency Carrier Panel | 898280 | Residual Risk | 8251-1 | ||
| 898100 | High Frequency Carrier Panel | 898093 | Method | 49549-9 | ||
| 898100 | High Frequency Carrier Panel | 898095 | Disclaimer | 62364-5 | ||
| 898100 | High Frequency Carrier Panel | 898094 | Limitations | 62364-5 | ||
| 898100 | High Frequency Carrier Panel | 898281 | Limitations Continued | 8251-1 | ||
| 898100 | High Frequency Carrier Panel | 898096 | Director Review/Release | 72486-4 | ||
| 898100 | High Frequency Carrier Panel | 898097 | Image | N/A | ||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898082 | |||||
| Result Code Name | Corrected/Amended Comments | |||||
| UofM | ||||||
| Result LOINC | 91582-7 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898273 | |||||
| Result Code Name | Additional Information | |||||
| UofM | ||||||
| Result LOINC | 55752-0 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898912 | |||||
| Result Code Name | Result | |||||
| UofM | ||||||
| Result LOINC | 51968-6 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898087 | |||||
| Result Code Name | Summary | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898089 | |||||
| Result Code Name | Clinical Summary | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898088 | |||||
| Result Code Name | Clinical Comments | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898085 | |||||
| Result Code Name | Inheritance | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898086 | |||||
| Result Code Name | Partner Testing Recommended | |||||
| UofM | ||||||
| Result LOINC | 77202-0 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898090 | |||||
| Result Code Name | Results to Note | |||||
| UofM | ||||||
| Result LOINC | 106173-8 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898279 | |||||
| Result Code Name | Next Steps | |||||
| UofM | ||||||
| Result LOINC | 107556-3 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898091 | |||||
| Result Code Name | Variant Details | |||||
| UofM | ||||||
| Result LOINC | 82939-0 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898084 | |||||
| Result Code Name | About Test | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898092 | |||||
| Result Code Name | Genes Analyzed | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898280 | |||||
| Result Code Name | Residual Risk | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898093 | |||||
| Result Code Name | Method | |||||
| UofM | ||||||
| Result LOINC | 49549-9 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898095 | |||||
| Result Code Name | Disclaimer | |||||
| UofM | ||||||
| Result LOINC | 62364-5 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898094 | |||||
| Result Code Name | Limitations | |||||
| UofM | ||||||
| Result LOINC | 62364-5 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898281 | |||||
| Result Code Name | Limitations Continued | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898096 | |||||
| Result Code Name | Director Review/Release | |||||
| UofM | ||||||
| Result LOINC | 72486-4 | |||||
| Order Code | 898100 | |||||
| Order Code Name | High Frequency Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898097 | |||||
| Result Code Name | Image | |||||
| UofM | ||||||
| Result LOINC | N/A |