Alpha-Globin Common Mutation Analysis, Fetus

Test Code

91711

CPT Codes
81257

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.

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.

Please order test code 10262 or 10477 (NY), Maternal Cell Contamination (MCC) Studies with this test.

A separate tube of maternal blood (EDTA) must be drawn in order to rule out maternal contamination of the fetal sample.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 48 hours
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: Sun; Report available: 2-3 weeks (following set up)

Reference Range

See Laboratory Report

Clinical Significance

Prenatal diagnosis of Alpha Thalassemia.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.