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(CTC) Alpha-Globin Gene Deletion or Duplication
Test Code716124
CPT Codes
99199
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
Whole blood: 3 mL
Amniotic fluid: 5 mL
Chorionic villus sampling: 10 mg
Amniotic fluid: 5 mL
Chorionic villus sampling: 10 mg
Other Acceptable Specimens
Whole blood collected in sodium heparin (green-top), lithium heparin (green-top), ACD solution B (yellow-top) tube • 20 mL amniotic fluid • Cultured cells in T-25 flask • 20 mg Chorionic villus sampling in tissue culture media
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Glass tubes should not be shipped frozen.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze. Amniocyte culture: Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze.
Dissected chorionic villi (CVS) biopsy: 10-20 mg dissected CVS collected in sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze.
Provide Family History; For prenatal diagnosis with a fetal specimen:
1) parents must be documented carriers of one of the mutations tested;
2) maternal blood or DNA must be available;
3) contact the laboratory genetic counselor before submission. Provide Clinical Information (MCV, Blood Work, Age, Alpha Globin mutations detected, ethnicity).
For other sample types please contact the laboratory.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze. Amniocyte culture: Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze.
Dissected chorionic villi (CVS) biopsy: 10-20 mg dissected CVS collected in sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze.
Provide Family History; For prenatal diagnosis with a fetal specimen:
1) parents must be documented carriers of one of the mutations tested;
2) maternal blood or DNA must be available;
3) contact the laboratory genetic counselor before submission. Provide Clinical Information (MCV, Blood Work, Age, Alpha Globin mutations detected, ethnicity).
For other sample types please contact the laboratory.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Samples received frozen
Methodology
Mutiplex PCR • Capillary Electrophoresis
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: as needed, reports 2-3 weeks following set up.
Clinical Significance
This test can be used to detect the presence or absence of large deletions in the HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin deletions. The assay can also be used in the prenatal diagnosis of alpha thalassemia. The assay does not determine the type or breakpoint of the rearrangement. This assay can be used instead of Southern Blot analysis to determine the total number of intact alpha globin genes.
