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Beta-Globin Complete

Test code(s) 14974, 14979 (NY)

Question 1. What is the next step for family planning if my patient tests positive for a beta-globin mutation?

Both parents must be carriers of a 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). Mutation testing may also be appropriate for the partner. Please call 866-GENE-INFO to discuss the case with a genetic counselor.

Question 2. My patient has only one mutation identified on beta-globin sequencing. I understand that other than having mild microcytic anemia, carriers are asymptomatic. My patient, however, is severely anemic and is symptomatic. What should I do?

There may be other genetic causes for severe anemia. For example, an alpha-globin triplication (5 alpha gene copies), together with a beta zero mutation, can result in beta-thalassemia intermedia. The Alpha-Globin Gene Deletion or Duplication assay (test code 16124X [16125X for NY]) can detect an alpha-globin triplication. Please call 866-GENE-INFO to discuss the case, the patient’s indices, and additional testing options.

Alternatively, the patient could have a rare deletion or duplication that would not be identified in the Beta-Globin Complete test. The Beta-Globin Gene Dosage Analysis test (test code 16346 [16347 for NY]) can detect other deletions or duplications in this gene. Please contact 866-GENE-INFO to speak with a genetic counselor before ordering this test.

Question 3. Beta-globin gene sequencing was performed on a child who was found to have hemoglobin SS disease. One parent has an AS genotype, but the other has an AA genotype. How is this possible?

The patient could have a rare deletion or duplication that would not be identified in the Beta-Globin Complete sequencing test. The Beta-Globin Gene Dosage Analysis test (test code 16346 [16347 for NY]) can detect other deletions or duplications in this gene. Please contact 866-GENE-INFO to speak with a genetic counselor before ordering this test.

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.18 Revision: 1