Targeted Variant Analysis
Also known as: Family testing, Known variant analysis, Mutation specific sequencing, MUTSEQ
Use
This test is used for testing for a known variant documented in the family and is available only for genes included in Inheritest® and GeneSeq® Cardio panels.
Special Instructions
The specific gene and variant(s) to be analyzed must be clearly indicated on the test requisition form to avoid delays in testing. Additionally, including a copy of the previously tested family member's laboratory report is recommended for proper documentation. It is advised to call the provided laboratory genetic coordinator contact number for any required guidance prior to submitting specimens. If prior testing was conducted at an external laboratory, submitting a positive control sample is highly recommended. All test orders must include an attestation that confirms the patient's informed consent for genetic testing has been obtained.
Limitations
This test does not detect germline mosaicism and cannot rule out the presence of large chromosomal aberrations such as rearrangements or gene fusions. It does not detect variants in genes not covered by this test or interactions between variants. The interpretation or classification of variants may change as more information becomes available over time. False positive or false negative results may occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplants, somatic or tissue-specific mosaicism, mislabeled samples, or errors in representing family relationships.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 50397-9
- 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; 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.
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 |