Test Details
Methodology
Next-generation sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Result Turnaround Time
14 - 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 gene: CFTR.
Use
This test is used for carrier screening for cystic fibrosis by full gene sequencing and deletion/duplication analysis. Variants of uncertain significance are not included.
Special Instructions
To test fetal specimens, including cord blood, order GeneSeq PLUS, Fetal Analysis [482389].
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. 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.
References
Specimen Requirements
Specimen
Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Volume
4 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Minimum Volume
3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Container
Yellow-top (ACD-A) or lavender-top (EDTA) or pink-top (EDTA) or tan-top (EDTA) tubes or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit
Collection Instructions
Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Stability Requirements
Whole blood: 14 days at room temperature or 30 days at 4°C
Buccal: 60 days at room temperature
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; improper container
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482617 | Ethnicity | 42784-9 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482618 | Specimen Type | 31208-2 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482619 | Genetic Counselor | 89993-0 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482620 | Indication | 42349-1 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482621 | Result: | 90256-9 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482622 | Interpretation | 53039-4 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482623 | General Comments | 8262-8 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482624 | Recommendations | 62385-0 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482625 | Additional ClinicalInformation | 55752-0 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482626 | Comments | 8251-1 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482627 | Methods/Limitations | 49549-9 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482628 | References | 75608-0 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482629 | Director Review/Release | 72486-4 | |
| 482632 | CF Full-gene Carrier Screen | 90256-9 | 482630 | 51969-4 | ||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482617 | |||||
| Result Code Name | Ethnicity | |||||
| UofM | ||||||
| Result LOINC | 42784-9 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482618 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | 31208-2 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482619 | |||||
| Result Code Name | Genetic Counselor | |||||
| UofM | ||||||
| Result LOINC | 89993-0 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482620 | |||||
| Result Code Name | Indication | |||||
| UofM | ||||||
| Result LOINC | 42349-1 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482621 | |||||
| Result Code Name | Result: | |||||
| UofM | ||||||
| Result LOINC | 90256-9 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482622 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 53039-4 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482623 | |||||
| Result Code Name | General Comments | |||||
| UofM | ||||||
| Result LOINC | 8262-8 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482624 | |||||
| Result Code Name | Recommendations | |||||
| UofM | ||||||
| Result LOINC | 62385-0 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482625 | |||||
| Result Code Name | Additional ClinicalInformation | |||||
| UofM | ||||||
| Result LOINC | 55752-0 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482626 | |||||
| Result Code Name | Comments | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482627 | |||||
| Result Code Name | Methods/Limitations | |||||
| UofM | ||||||
| Result LOINC | 49549-9 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482628 | |||||
| Result Code Name | References | |||||
| UofM | ||||||
| Result LOINC | 75608-0 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482629 | |||||
| Result Code Name | Director Review/Release | |||||
| UofM | ||||||
| Result LOINC | 72486-4 | |||||
| Order Code | 482632 | |||||
| Order Code Name | CF Full-gene Carrier Screen | |||||
| Order Loinc | 90256-9 | |||||
| Result Code | 482630 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 51969-4 |