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Alpha-Globin Gene Deletion or Duplication

Test Summary

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.

Aliases

  • N/A

Specimen Collection

Special Instructions

N/A

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL whole blood • 10 mL amniotic fluid • 10 mg chorionic villi

Instructions

Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission; 2) Documentation of parental carrier status must be provided; 3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi 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; forward to laboratory when sample arrives.


Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

Specimen Stability

  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • Whole blood
  • Room temperature: 30 days
  • Refrigerated: 30 days
  • Frozen: 30 days
  • Amniotic fluid, chorionic villi, cultured cells
  • Room temperature: 48 hours
  • Refrigerated: Unacceptable
  • Frozen: Unacceptable

Limitations

This test does not identify whether a two-gene deletion is in cis (on the same chromosome) or trans (on opposite chromosomes). In the absence of a coexisting deletion on the opposite chromosome, this test can identify the presence of an extra alpha globin gene (alpha triplication).

Other Acceptable Specimens

Whole blood collected in: Sodium heparin (green-top) tube or ACD (yellow-top) tube • 10 mL amniotic fluid collected in a sterile plastic leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two separate sterile T-25 flasks, 75% confluent

Unacceptable Specimens

Do not reject

Order Code

GLOBGN

EPIC (Premier) Code

LAB6305

Includes

N/A

CPT Code

  • 81269

Billing Code

  • 700000

CPT Statement

CPT Statement

Methodology

Capillary Electrophoresis • Multiplex PCR

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 the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

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.

Testing Laboratory

Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Tuesday; Report available: 2 - 3 weeks following set up

Specimen Collection

Special Instructions

N/A

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL whole blood • 10 mL amniotic fluid • 10 mg chorionic villi

Instructions

Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission; 2) Documentation of parental carrier status must be provided; 3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi 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; forward to laboratory when sample arrives.


Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

Specimen Stability

  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • ⁠
  • Whole blood
  • Room temperature: 30 days
  • Refrigerated: 30 days
  • Frozen: 30 days
  • Amniotic fluid, chorionic villi, cultured cells
  • Room temperature: 48 hours
  • Refrigerated: Unacceptable
  • Frozen: Unacceptable

Limitations

This test does not identify whether a two-gene deletion is in cis (on the same chromosome) or trans (on opposite chromosomes). In the absence of a coexisting deletion on the opposite chromosome, this test can identify the presence of an extra alpha globin gene (alpha triplication).

Other Acceptable Specimens

Whole blood collected in: Sodium heparin (green-top) tube or ACD (yellow-top) tube • 10 mL amniotic fluid collected in a sterile plastic leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two separate sterile T-25 flasks, 75% confluent

Unacceptable Specimens

Do not reject

Billing

CPT Code

  • 81269

Billing Code

  • 700000

CPT Statement

CPT Statement

Result Information

Methodology

Capillary Electrophoresis • Multiplex PCR

Testing Laboratory

N/A

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Tuesday; Report available: 2 - 3 weeks following set up