Synonyms
- Carrier screening
- Expanded carrier testing
- Pan-ethnic carrier screening
Test Includes
Testing includes carrier screening for 14 genes, including genes for fragile X carrier syndrome and spinal muscular atrophy (SMA). This test includes the following genes: ASPA, BLM, CFTR, ELP1, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, MCOLN1, SMN1 and SMPD1.
Special Instructions
Males are not tested for x-linked disorders, including fragile X syndrome.
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Expected 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.
Related Documents
For more information, please view the literature below.
Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS
Specimen Requirements
Specimen
Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit
Volume
8.5 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) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit
Collection
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.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Stability Requirements
Whole blood: 4 days at room temperature or 4°C
Buccal: 60 days at room temperature
Saliva: 60 days at room temperature
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw
Test Details
Use
This test is used for pan-ethnic carrier screening and includes disorders listed in the American College of Obstetricians and Gynecologists (ACOG) recommendations.
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.
Methodology
Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).
Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.
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):1793-1806.34285390
LOINC® Map
Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
---|---|---|---|---|---|---|
481797 | Inheritest 14-Gene Panel | 481778 | Ethnicity | 42784-9 | ||
481797 | Inheritest 14-Gene Panel | 481779 | Specimen Type | 31208-2 | ||
481797 | Inheritest 14-Gene Panel | 481780 | Genetic Counselor | 89993-0 | ||
481797 | Inheritest 14-Gene Panel | 481781 | Indication | 42349-1 | ||
481797 | Inheritest 14-Gene Panel | 481782 | Result: | 50397-9 | ||
481797 | Inheritest 14-Gene Panel | 481783 | Interpretation | 53039-4 | ||
481797 | Inheritest 14-Gene Panel | 481784 | General Comments | 8262-8 | ||
481797 | Inheritest 14-Gene Panel | 481787 | Recommendations | 62385-0 | ||
481797 | Inheritest 14-Gene Panel | 481788 | Additional ClinicalInformation | 55752-0 | ||
481797 | Inheritest 14-Gene Panel | 481789 | Comments | 8251-1 | ||
481797 | Inheritest 14-Gene Panel | 481790 | Methods/Limitations | 49549-9 | ||
481797 | Inheritest 14-Gene Panel | 481791 | References | 75608-0 | ||
481797 | Inheritest 14-Gene Panel | 481792 | Disorders Tested | 19102-3 | ||
481797 | Inheritest 14-Gene Panel | 481793 | Director Review/Release | 72486-4 | ||
481797 | Inheritest 14-Gene Panel | 481794 | 51969-4 | |||
481797 | Inheritest 14-Gene Panel | 481796 | Patient Gender | 99502-7 |
Reflex Table for Patient Gender | ||||||
---|---|---|---|---|---|---|
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
Reflex 1 | 482128 | Guideline Driven + Fragile X | 482126 | Guideline Driven Panel NGSBC | Pending |
Reflex Table for Patient Gender | ||||||
---|---|---|---|---|---|---|
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
Reflex 1 | 482128 | Guideline Driven + Fragile X | 482127 | FRAXBC | N/A |
Reflex Table for Patient Gender | ||||||
---|---|---|---|---|---|---|
Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
Reflex 1 | 482129 | Guideline Driven NGSBC | 482129 | Guideline Driven NGSBC | N/A |