Alpha-Globin Gene Sequencing

Also known as: HB Constant Spring, Constant Spring, Alpha-Globin Variants, Hemoglobin Constant Spring, Nondeletional Alpha-Thalassemia

Clinical Use

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Use

This germline genetic test identifies alpha‑globin gene mutations associated with alpha‑thalassemia, including rare non‑deletional variants. It may be used to clarify unexplained results from alpha‑globin deletion analyses or hemoglobinopathy screens, aiding diagnosis and carrier detection. We derived this purpose from Quest Diagnostics’ description on their GTR record, noting the test is used for diagnosis, screening, and resolving deletion analysis results. ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/507968/?utm_source=openai))

Special Instructions

Not provided.

Limitations

Sequencing may not detect deletions or duplications; cases with suspected copy‑number changes should be referred to appropriate assays such as the Alpha‑Globin Gene Deletion or Duplication test (test code 16124X for NY). Variants of uncertain significance must be interpreted with clinical correlation and possibly family studies. ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/aggsequencing?utm_source=openai))

Test Details