Synonyms
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Allscripts (AEHR) Order Name
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Cystic Fibrosis DNA Analysis, Fetus
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Sunrise Clinical Manager (SCM) Order Name
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Cystic Fibrosis DNA Analysis, Fetus
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EPIC Order Name
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Prenatal Cystic Fibrosis Mutation Analysis
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Clinical Info
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Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent. This test is appropriate to determine if the fetus has inherited known mutations, limited to the general cystic fibrosis mutation panel, from both parents.
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Specimen Type
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Container
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Sterile
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Collection Instructions
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Container/Tube: Sterile leak-proof container Specimen: 20 mL amniotic fluid (10mL min) or 10 mg chorionic villi Transport Temperature: Room Temperature Stability: 48 hours Room Temperature Unacceptable refrigerated or Frozen Collection Instructions Please indicate the ethnicity of the patient. 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 to rule out maternal cell contamination 3) contact the laboratory genetic counselor before submission. Amniotic Fluid: Normal collection procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze. Amniocyte culture: (x2) sterile T25 flasks, filled with culture medium. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze. Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture medium or (x2) sterile T25 flasks. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze. It is recommended that Maternal Cell Contamination (MCC) Studies be sent with this test. Please submit 5 mL maternal blood in an EDTA (lavender-top) tube. Contact the laboratory genetic counselor before submission.
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Transport Instructions
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Room Temperature
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Specimen Stability
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48 hours Room Temperature Unacceptable refrigerated or Frozen Collection Instructions Please indicate the ethnicity of the patient. For prenatal diagnosis with a fetal
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Methodology
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Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing The analytical performance characteristics of this assay have been determined by Quest Diagnostics Nichols Institute Chantilly, VA. The modifications have not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
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Days Performed
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Sunday - Saturday 8 Day TAT
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Performing Laboratory
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Quest Diagnostics' Nichols Institute, Inc. - Chantilly
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CPT
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81200 88235 Loinc Code: 34718-7
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PDM
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1959233
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Result Interpretation
See Laboratory Report
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Forms
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