Inheritest® CF/SMA Panel
Also known as: Carrier screening, Pan-ethnic carrier screening
Use
This test is used for carrier screening for cystic fibrosis and spinal muscular atrophy.
Special Instructions
Not provided.
Limitations
Technologies used in this test do not detect germline mosaicism and cannot rule out large chromosomal aberrations such as rearrangements and gene fusions. The presence of variants in regions or genes not included in this test cannot be assessed. Additionally, inter/intragenic interactions between variants or repeat expansions are not addressed. Variant classification may change over time as more data becomes available. Possible issues leading to false positives or negatives include rare genetic variants, sex chromosome abnormalities, pseudogene interference, previous blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or incorrect representation of family relationships.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48018-6 - Gene studied ID
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 50397-9 - Mol dx interp Bld/T Ql
- 53039-4 - Gene dis anl carrier interp-Imp
- 8262-8 - Service Cmnt 02-Imp
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 8251-1 - Service Cmnt-Imp
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 51969-4 - Gene analysis narr rpt Doc
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 or blood specimens more than four days post draw
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
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