| 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 # |
Cystic Fibrosis Prenatal acreen
MessageWilford Hall
Test Code
WH18
Alias/See Also
"CF MUTATION SCREEN
CF CARRIER
L480533
480533 LAB CORP
CF PRENATAL
CFDNA
CF DNA"
CF CARRIER
L480533
480533 LAB CORP
CF PRENATAL
CFDNA
CF DNA"
Preferred Specimen
Whole Blood 7 mL
Minimum Volume
3 mL
Other Acceptable Specimens
AMNIOTIC FLUID 3-5 mL TISSUE
Instructions
OMPLETE CF SCREENING QUESTIONNAIRE. COLLECT Monday through Thursday. No specimen collection should be performed on FRIDAY, Weekends, Holidays, or days prior to a Holiday.
Transport Container
LAV/EDTA
Transport Temperature
Room Temp
Specimen Stability
Room Temp
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
FROZEN OR HEMOLYSED SPECIMEN IMPROPER CONTAINER
Limitations
"ESTIMATED CARRIER RISK
ETHNIC GROUP DETECTION BEFORE AFTER NEGATIVE
RATE TEST TEST Ashkenazi Jewish 97% 1/25 ~1 in 800 European Caucasian 80% 1/25 ~1 in 240 African American 69% 1/65 ~1 in 207 Hispanic American(a) 57% 1/46 ~1 in 105
Asian American Unknown 1/90 Unknown This is a pooled set of data and requires additional information to
accurately predict risk for specific Hispanic populations.
This test detects the 25 mutation recommended by the American College of
Medical Genetics for Cystic Fibrosis (CF) carrier screening plus the additioal
mutations S549R, S549N, 3876delA, V520F, R347H, 390insT, and 394delTT. DNA
isolated from a patient specimen is amplified by PCR and analyzed for mutation
by an oligonucleotide ligation assay (OLA). The PCR and OLA reactions are
performed with analyte specific reagents manufactured by Celera Diagnostics
and marketed by Abbott. General Disclaimer: DNA Studies do not constitute a
definitive carrier test for CF in all individuals. Genotyping errors can
result from rare genetic variants that interfere with analysis. This test was
developed and its performance characteristics determined by the AFIP MolecularDiagnostics Laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration"
ETHNIC GROUP DETECTION BEFORE AFTER NEGATIVE
RATE TEST TEST Ashkenazi Jewish 97% 1/25 ~1 in 800 European Caucasian 80% 1/25 ~1 in 240 African American 69% 1/65 ~1 in 207 Hispanic American(a) 57% 1/46 ~1 in 105
Asian American Unknown 1/90 Unknown This is a pooled set of data and requires additional information to
accurately predict risk for specific Hispanic populations.
This test detects the 25 mutation recommended by the American College of
Medical Genetics for Cystic Fibrosis (CF) carrier screening plus the additioal
mutations S549R, S549N, 3876delA, V520F, R347H, 390insT, and 394delTT. DNA
isolated from a patient specimen is amplified by PCR and analyzed for mutation
by an oligonucleotide ligation assay (OLA). The PCR and OLA reactions are
performed with analyte specific reagents manufactured by Celera Diagnostics
and marketed by Abbott. General Disclaimer: DNA Studies do not constitute a
definitive carrier test for CF in all individuals. Genotyping errors can
result from rare genetic variants that interfere with analysis. This test was
developed and its performance characteristics determined by the AFIP MolecularDiagnostics Laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration"
Clinical Significance
"CF PROFILE DNA ANALYSIS Units of Measure: N/A means NOT APPLICABLE CF PROFILE, DNA ANALYSIS tests for the 32 most common cystic fibrosis (CF) mutations. This includes the 25-mutation panel recommended by ACOG and American College of Medical Genetics (ACMG). The presence of a rare mutation cannot be ruled out. The mutation detection rate for this assay varies with ethnicity. Please contact your lab for a copy of this report if you are concerned about your patient's carrier risk before testing and/or the remaining risk given a negative test result.
Diagnosis of CF should not rely on DNA testing alone, but should take
into consideration clinical symptoms and other test results, such as sweat chloride analysis.
Cystic fibrosis is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms. CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.
This test was developed and its performance characteristics determined by Laboratory Corporation of America Holdings (LabCorp). It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research."
Diagnosis of CF should not rely on DNA testing alone, but should take
into consideration clinical symptoms and other test results, such as sweat chloride analysis.
Cystic fibrosis is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms. CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.
This test was developed and its performance characteristics determined by Laboratory Corporation of America Holdings (LabCorp). It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research."
