Test Details
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.
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
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, GBA1 (previously known as 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
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.
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.
Specimen Requirements
Specimen
Whole blood or Oragene Dx 500 saliva kit
Volume
8.5 mL whole blood or Oragene Dx saliva kit
Minimum Volume
3 mL whole blood or Oragene Dx saliva kit
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or Oragene Dx 500 saliva collection kit
Collection Instructions
Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Stability Requirements
Whole blood: 4 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; improper container or blood specimens more than four days post draw
References
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481778 | Ethnicity | 42784-9 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481779 | Specimen Type | 31208-2 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481780 | Genetic Counselor | 89993-0 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481781 | Indication | 42349-1 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481782 | Result: | 50397-9 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481783 | Interpretation | 53039-4 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481784 | General Comments | 8262-8 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481787 | Recommendations | 62385-0 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481788 | Additional ClinicalInformation | 55752-0 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481789 | Comments | 8251-1 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481790 | Methods/Limitations | 49549-9 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481791 | References | 75608-0 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481792 | Disorders Tested | 19102-3 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481793 | Director Review/Release | 72486-4 | |
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481794 | 51969-4 | ||
| 481797 | Inheritest 14-Gene Panel | 50397-9 | 481796 | Patient Gender | 99502-7 | |
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481778 | |||||
| Result Code Name | Ethnicity | |||||
| UofM | ||||||
| Result LOINC | 42784-9 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481779 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | 31208-2 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481780 | |||||
| Result Code Name | Genetic Counselor | |||||
| UofM | ||||||
| Result LOINC | 89993-0 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481781 | |||||
| Result Code Name | Indication | |||||
| UofM | ||||||
| Result LOINC | 42349-1 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481782 | |||||
| Result Code Name | Result: | |||||
| UofM | ||||||
| Result LOINC | 50397-9 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481783 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 53039-4 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481784 | |||||
| Result Code Name | General Comments | |||||
| UofM | ||||||
| Result LOINC | 8262-8 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481787 | |||||
| Result Code Name | Recommendations | |||||
| UofM | ||||||
| Result LOINC | 62385-0 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481788 | |||||
| Result Code Name | Additional ClinicalInformation | |||||
| UofM | ||||||
| Result LOINC | 55752-0 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481789 | |||||
| Result Code Name | Comments | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481790 | |||||
| Result Code Name | Methods/Limitations | |||||
| UofM | ||||||
| Result LOINC | 49549-9 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481791 | |||||
| Result Code Name | References | |||||
| UofM | ||||||
| Result LOINC | 75608-0 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481792 | |||||
| Result Code Name | Disorders Tested | |||||
| UofM | ||||||
| Result LOINC | 19102-3 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481793 | |||||
| Result Code Name | Director Review/Release | |||||
| UofM | ||||||
| Result LOINC | 72486-4 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481794 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 51969-4 | |||||
| Order Code | 481797 | |||||
| Order Code Name | Inheritest 14-Gene Panel | |||||
| Order Loinc | 50397-9 | |||||
| Result Code | 481796 | |||||
| Result Code Name | Patient Gender | |||||
| UofM | ||||||
| Result LOINC | 99502-7 |
| 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 1 | ||||||
| Order Code | 482128 | |||||
| Order Name | Guideline Driven + Fragile X | |||||
| Result Code | 482126 | |||||
| Result Name | Guideline Driven Panel NGSBC | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 482128 | Guideline Driven + Fragile X | 482127 | FRAXBC | N/A | |
| Reflex 1 | ||||||
| Order Code | 482128 | |||||
| Order Name | Guideline Driven + Fragile X | |||||
| Result Code | 482127 | |||||
| Result Name | FRAXBC | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 482129 | Guideline Driven NGSBC | 482129 | Guideline Driven NGSBC | N/A | |
| Reflex 1 | ||||||
| Order Code | 482129 | |||||
| Order Name | Guideline Driven NGSBC | |||||
| Result Code | 482129 | |||||
| Result Name | Guideline Driven NGSBC | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||