Prenatal Cystic Fibrosis 97 Mutation Analysis

Synonyms

• CFFETUS
• CYSTIC FIBROSIS DNA ANALYSIS, FETUS
• LAB11628
• PRENATAL CF

Cerner Name

CFFETUS

Clinical Info

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.

Specimen Sources

Amniotic Sac

Specimen Types

Amniotic Fluid

Container

Sterile

Collection Instructions

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.
  
 

Specimen Volume

20 mL amniotic fluid (10mL min) or 10 mg chorionic villi

Transport Instructions

Room Temperature

Specimen Stability

48 hours Room Temperature
                Unacceptable refrigerated or Frozen
Collection Instructions
Please indicate the ethnicity of the patient. For prenatal diagnosis with a fetal

Methodology

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.

Days Performed

Sunday - Saturday 8 Day TAT

Performing Laboratory

Quest Diagnostics' Nichols Institute, Inc. - Chantilly

CPT

81200
88235
 
Loinc Code:  34718-7

PDM

1959233

Only Orderable at Locations:

Orderable Everywhere

Results

Result Interpretation

Forms