GeneSeq® PLUS
Also known as: Full gene sequencing, partner testing, gene specific sequencing
Use
Single gene analysis is available for all genes included in any Inheritest® or GeneSeq®: Cardio panel except for SMN1 and FMR1. To order single gene analysis, use Spinal Muscular Atrophy (SMA) [481630] and Fragile X Syndrome, Carrier [481684].
Special Instructions
The specific gene(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene(s) will result in testing delays. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Limitations
This test does not detect germline mosaicism, large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included. Variant classification and interpretation may change over time. False positive or negative results may occur due to rare genetic variants, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships. The test has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 19102-3
- 19102-3
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 50397-9
- 53039-4
- 8262-8
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 75608-0
- 72486-4
- 51969-4
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy; do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Patient Preparation
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.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
