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 features carrier screening for 14 genes, including genes for cystic fibrosis (CF), fragile X carrier syndrome and spinal muscular atrophy (SMA). This test includes the following genes: ASPA, BLM, CFTR, ELP1, FANCC, FMR1, GBA1 (GBA), HBA1, HBA2, HBB, HEXA, MCOLN1, SMN1 and SMPD1.
Use
This test is used for pan-ethnic carrier screening and includes disorders listed in the American College of Obstetricians and Gynecologists' (ACOG) recommendations.
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic 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 |
|---|---|---|---|---|---|---|
| 898099 | 14-gene Carrier Panel | 898082 | Corrected/Amended Comments | 91582-7 | ||
| 898099 | 14-gene Carrier Panel | 898273 | Additional Information | 55752-0 | ||
| 898099 | 14-gene Carrier Panel | 898895 | Result | 51968-6 | ||
| 898099 | 14-gene Carrier Panel | 898087 | Summary | N/A | ||
| 898099 | 14-gene Carrier Panel | 898089 | Clinical Summary | N/A | ||
| 898099 | 14-gene Carrier Panel | 898088 | Clinical Comments | N/A | ||
| 898099 | 14-gene Carrier Panel | 898085 | Inheritance | N/A | ||
| 898099 | 14-gene Carrier Panel | 898086 | Partner Testing Recommended | 77202-0 | ||
| 898099 | 14-gene Carrier Panel | 898090 | Results to Note | 106173-8 | ||
| 898099 | 14-gene Carrier Panel | 898279 | Next Steps | 107556-3 | ||
| 898099 | 14-gene Carrier Panel | 898091 | Variant Details | 82939-0 | ||
| 898099 | 14-gene Carrier Panel | 898084 | About Test | N/A | ||
| 898099 | 14-gene Carrier Panel | 898092 | Genes Analyzed | N/A | ||
| 898099 | 14-gene Carrier Panel | 898280 | Residual Risk | 8251-1 | ||
| 898099 | 14-gene Carrier Panel | 898093 | Method | 49549-9 | ||
| 898099 | 14-gene Carrier Panel | 898095 | Disclaimer | 62364-5 | ||
| 898099 | 14-gene Carrier Panel | 898094 | Limitations | 62364-5 | ||
| 898099 | 14-gene Carrier Panel | 898281 | Limitations Continued | 8251-1 | ||
| 898099 | 14-gene Carrier Panel | 898096 | Director Review/Release | 72486-4 | ||
| 898099 | 14-gene Carrier Panel | 898097 | Image | N/A | ||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898082 | |||||
| Result Code Name | Corrected/Amended Comments | |||||
| UofM | ||||||
| Result LOINC | 91582-7 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898273 | |||||
| Result Code Name | Additional Information | |||||
| UofM | ||||||
| Result LOINC | 55752-0 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898895 | |||||
| Result Code Name | Result | |||||
| UofM | ||||||
| Result LOINC | 51968-6 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898087 | |||||
| Result Code Name | Summary | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898089 | |||||
| Result Code Name | Clinical Summary | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898088 | |||||
| Result Code Name | Clinical Comments | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898085 | |||||
| Result Code Name | Inheritance | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898086 | |||||
| Result Code Name | Partner Testing Recommended | |||||
| UofM | ||||||
| Result LOINC | 77202-0 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898090 | |||||
| Result Code Name | Results to Note | |||||
| UofM | ||||||
| Result LOINC | 106173-8 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898279 | |||||
| Result Code Name | Next Steps | |||||
| UofM | ||||||
| Result LOINC | 107556-3 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898091 | |||||
| Result Code Name | Variant Details | |||||
| UofM | ||||||
| Result LOINC | 82939-0 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898084 | |||||
| Result Code Name | About Test | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898092 | |||||
| Result Code Name | Genes Analyzed | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898280 | |||||
| Result Code Name | Residual Risk | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898093 | |||||
| Result Code Name | Method | |||||
| UofM | ||||||
| Result LOINC | 49549-9 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898095 | |||||
| Result Code Name | Disclaimer | |||||
| UofM | ||||||
| Result LOINC | 62364-5 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898094 | |||||
| Result Code Name | Limitations | |||||
| UofM | ||||||
| Result LOINC | 62364-5 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898281 | |||||
| Result Code Name | Limitations Continued | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898096 | |||||
| Result Code Name | Director Review/Release | |||||
| UofM | ||||||
| Result LOINC | 72486-4 | |||||
| Order Code | 898099 | |||||
| Order Code Name | 14-gene Carrier Panel | |||||
| Order Loinc | ||||||
| Result Code | 898097 | |||||
| Result Code Name | Image | |||||
| UofM | ||||||
| Result LOINC | N/A |