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Test Code D0408
Test Summary

Testing of point mutations for Sickle Cell and Other Hemoglobinopathies

Turn-Around-Time (TAT)* 10  - 12 days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
Commercial Insurance
CPT Codes** 81363 (x1), 81364 (x1)
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.
**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.

Testing for Hb S (173A>T), Hb C (172G>A), Hb E (232G>A), Hb D (121G>C) and Hb O (121G>A); β Thalassaemias:: -29A>G, -88C>T, and IVS1+6T>C

Symptoms of Sickle Cell and Other Hemoglobinopathies

Sickle Cell Anemia and/or other Hemoglobinopathies

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.

Dried Blood Spots
Collection Container(s):

Dried blood spot card


Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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.

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