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Sickle Cell and Other Hemoglobinopathies Mutation Panel

Omics test Model
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
Self (patient) Price $203.50
Institutional Price $203.50
CPT Codes** 81361(x1)
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**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.
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Test Code: D0408
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General Biochemical and Molecular Requisition Form

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
Test Details Page
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.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
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.

Resources

General Biochemical and Molecular Requisition Form
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