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Alpha-Globin Gene Sequencing

Test code(s) 16116X, 16117 (NY)

Question 1. My patient has abnormal hemoglobin indices but tested negative in the alpha-globin sequencing test. What can I do?

The patient could have a deletion or duplication that would not be identified by the sequencing test. The Alpha-Globin Common Mutation Analysis test (test code 11175 [11174 for NY]) can detect the seven most common deletions. If the patient has already had a negative result for alpha-globin common mutations and a negative result by sequencing, rare deletions or duplications in the alpha-1 and alpha-2 genes may be present that would not be identified by either of these tests. The Alpha-Globin Gene Deletion or Duplication assay (test code 16124X [16125X for NY]) can detect other rare deletions or duplications.

Please call 866-GENE-INFO to discuss the case, the patient’s indices, and additional testing options.

Question 2. My patient has a variant of uncertain significance. What does this mean?

Variants that have not been previously described in literature or whose significance is unclear based upon all currently available evidence must be correlated with the patient’s clinical presentation and family history. Family studies may be indicated to better understand the clinical significance of this variant. Please call 866-GENE-INFO to discuss with a genetic counselor if you have further questions.

Question 3. I have a patient who was found to be a carrier of a point mutation; she is pregnant or planning a pregnancy. What is the next step for family planning?

Both parents must be carriers of an alpha-thalassemia mutation for a pregnancy to be at risk. The partner should be screened to determine his/her hemoglobinopathy carrier status (Hemoglobinopathy Evaluation, test code 35489X). Molecular genetic testing may also be appropriate for the partner. Please call 866-GENE-INFO to discuss the case with a genetic counselor.

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.
Document: FAQS.27 Revision: 1