A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
(CTC) Alpha-Globin Gene Deletion or Duplication
Test Code716124
CPT Codes
*ERRO (x0) 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.
Collection 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.
Collection 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.
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
20 mL Amniotic fluid
Cultured cells
20 mg Chorionic villus sampling
Cultured cells
20 mg Chorionic villus sampling
Transport Container
Whole blood
__EDTA (lavender-top) (preferred)
__Sodium heparin (green-top)
__Lithium heparin (green-top)
__ACD solution B (yellow-top)
Cultured cells: T-25 Flask
Chorionic villus sampling: Tissue culture media
__EDTA (lavender-top) (preferred)
__Sodium heparin (green-top)
__Lithium heparin (green-top)
__ACD solution B (yellow-top)
Cultured cells: T-25 Flask
Chorionic villus sampling: Tissue culture media
Transport Temperature
All specimen types listed: Room temperature preferred;
_Refrigerated unacceptable; Frozen unacceptable
_Refrigerated unacceptable; Frozen unacceptable
Specimen Stability
Whole blood
__Room temperature: 8 Days
__Refrigerated: 8 Days
__Frozen: Unacceptable
Amniotic fluid or Cultured cells or Chorionic villus
sampling
__Room temperature: 8 Days
__Refrigerated: 8 Days
__Frozen: Unacceptable
Amniotic fluid or Cultured cells or Chorionic villus
sampling
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Samples received frozen
Methodology
Mutiplex PCR, Capillary Electrophoresis
Setup Schedule
A.M. Sets up 1 day a week.
Report Available
Reports in 14 to 29 days.
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.
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.