Sickle Cell and Other Hemoglobinopathies Mutation Panel
| Test Code | D0408 |
|---|---|
| Test Summary |
This assay tests for 8 variants in genes associated with sickle cell disease and other hemoglobinopathies. |
| Turn Around Time | 10 - 12 days |
| Acceptable Sample Types | Dried Blood Spots |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | Yes |
| CPT Codes** | 81361(x1) |
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
Test Description
This assay can detect the following variants: HbS c.173A>T, HbC c.172G>A, HbE c.232G>A, HbD c.121G>C and HbO c.121G>A; β-thalassaemias:: c.-29A>G, c.-88C>T, and IVS1+6T>C
Test Methods and Limitations
DNA analysis is performed to determine the copy number of one of the T-cell Receptor Excision Circles (TRECs) by real-time quantitative PCR and Absolute Quantification analysis. Serial dilutions of an external standard with predefined known concentrations are used to create a standard curve. During PCR amplification, the fluorescence values are measured to analyze quantification data. The point at which the fluorescence of a sample rises above the background fluorescence is called the “crossing point (Cp)” of the sample. The crossing points of standards and unknown samples are then used to determine the concentration of target DNA.
Detailed Sample Requirements
Dried Blood Spots
| Collection Container(s) | Dried blood spot card |
|---|---|
| Collection | Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
|
| Sample Condition | Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer. |
| Shipping | Follow kit instructions. Double bag and ship overnight at ambient temperature. |