| Test Name: |
INHERITEST® CF/SMA PANEL |
| Test Code: |
2194102 |
| Alias: |
Carrier screening
LAB15297
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| CPT Code(s): |
81220
81329
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| Test Includes: |
This test includes the following genes: CFTR and SMN1. |
| Preferred Specimen: |
8.5 mL whole blood |
| Container: |
EDTA Lavender tube |
| Alternate Container: |
Yellow top ACD-A tube |
| Minimum Volume: |
3.0 mL |
| Collection Instructions: |
Follow standard phlebotomy procedure. Allow tube to fill completely to meet specimen volume requirement. Do not centrifuge, do not aliquot. Send room temperature. |
| Transport Temperature: |
Room temperature |
| Stability: |
Room Temperature: 4 days
Refrigerated: 4 days
Frozen: unacceptable |
| Rejection Criteria: |
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw |
| 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. |
| Additional Information: |
Males are not tested for x-linked disorders, including fragile X syndrome.
**Due to only 4 day specimen stability, it is not recommended to collect before a holiday. |
| Schedule: |
TAT: 15-22 days (In some cases, additional time may be required for confirmatory or reflex tests.) |
| Method: |
Cystic fibrosis: Next Generation Sequencing (NGS)
Spinal muscular atrophy (SMA): Quantitative polymerase chain reaction (qPCR) |
| Performing Lab: |
Labcorp # 481758 |
| Clinical Significance: |
This test is used for carrier screening for cystic fibrosis and spinal muscular atrophy. |
| Use: |
Updated: 6/27/23 |
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The CPT codes included in this publication are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients; however, correct coding often varies from one carrier to another, and HealthLab may bill specific carriers using codes other than those shown. Clients who bill for services should verify the code(s) with the applicable payor to confirm that their use is appropriate in each case.
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| Test Type: |
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