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Sickle Cell Anemia, DNA Probe Analysis, Fetus (NY)
Test Code36194
CPT Codes
88235, 81361<br><strong>This test code is for New York patient testing. For non-New York patient testing, use test code 26382.</strong>
Preferred Specimen
10 mL amniotic fluid collected in a sterile plastic leak-proof container
Minimum Volume
10 mL amniotic fluid • 10 mg chorionic villi
Other Acceptable Specimens
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
Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
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 (preferred): 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.
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 (preferred): 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.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not reject
Methodology
Polymerase Chain Reaction (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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: as needed, minimum 2 times per week; Report available: 7-35 days
Limitations
This assay detects only the S and C mutations in the beta globin gene. This test cannot detect all HSS mutations associated with sickle cell disease or the presence of other hemoglobinopathies.
Clinical Significance
Direct detection of hemoglobin A, S, and C. This test is most useful for prenatal diagnosis of an at-risk fetus. This test can also be used for diagnosis of a symptomatic patient or carrier testing for a healthy adult.
Obtain genetic testing center (GTC) requisition from your local quest diagnostics laboratory. Fill out all requested information. Failure to use the GTC requisition will delay test results.
Obtain genetic testing center (GTC) requisition from your local quest diagnostics laboratory. Fill out all requested information. Failure to use the GTC requisition will delay test results.
