ThinPrep™ Solution: 1.0 ml (.50 ml), Ambient; SurePath™: 0.50 ml (0.25 ml), Ambient.  Buccal Swabs (mouth swabs): 2 quantity, Ambient;
EDTA or ACD Whole Blood: 5.0 ml (2.0 ml), Refrigerated;
Amniotic fluid: 10.0 ml (5.0 ml), Ambient or Refrigerated.
Note:  Prenatal specimens (i.e., Amniotic fluid or chorionic villus must be accompanied by a maternal buccal or blood sample).

ThinPrep™: Store and ship at ambient temp up to 3 months;
SurePath™: Store and ship at ambient temp up to 28 days;  
Buccal Swabs: are to be place in the original wrapper and transported in specimen guard bag, ambient; EDTA or ACD Whole Blood: transport refrigerated; Amniotic fluid: discard first 2 ml, then collect 5-10ml in a sterile plastic conical tube or one T-25 flask of confluent cells and transport at ambient temperature up to 24 hrs or refrigerate (2-8°C) up to 7 days.

ThinPrep™ Solution:  Less than 0.50 ml and/or more than 3 months;
SurePath™: Less than 0.25 ml and/or more than 28 days;  Buccal Swabs: Swabs not in original wrapper;    Whole Blood: Hemolysis or in heparin or insufficient volume or temp; Amniotic fluid: Incorrect container or temp.

ThinPrep™:  Stable for up to 3 months at room temp. SurePath™: Stable for up to 28 days at room temp;   Buccal Swabs: stable for up to 21 days at room temp; EDTA or ACD Whole Blood: stable for up to 7 days at refrig. (2-8°C) temp. and up to 4 days ambient; Amniotic fluid: stable for up to 24 hrs at room temp. and 7 days refrigerated.

83907 -- Lysis of cells prior to nucleic acid extraction
83891 -- Isolation or extraction of highly purified nucleic acid
83900 -- Amplification of patient nucleic acid, multiplex, first two sequences
83901 x 14 -- Amplification of patient nucleic acid, multiplex, each additional sequence
83914 x 32 -- Mutation identification by OLA, single segment, each segment
83909 -- Molecular dx, separation and identification by high   resolution technique
83912 -- Interpretation and Report
Note: Modifier = 8A: When molecular dx procedures are performed to test for an inherited disorder, use the appropriate modifier to specify probe type or condition tested.

Clinical Utility:  This assay is used to determine affected or carrier status of the 33 most common Cystic Fibrosis (CF) mutations and associated polymorphisms. It detects > 90% of CF mutations in the northern European Caucasian population. There may be higher or lower detection efficiency for different ethnicities. 
The American College of Obstetricians and Gynecologists (ACOG) now recommends that Ob-gyns make DNA screening for CF available to all couples seeking preconception or prenatal care—not just those with a personal family history of carrying the CF gene, as previously recommended.  ACOG recommends a screening panel of 25 common CF mutations and associated polymorphisms (Genetics in Medicine 3:149-154, 2001).

Cystic Fibrosis is one of the most common inherited diseases in the United States, affecting one infant out of every 3,000 live births.  If both parents are carriers, then their child has a 25%  (or one in four) chance of being born with CF. There is a 50% chance that the child will not have CF, but will be a carrier.  There is a 25% chance that the child will not be a carrier.  Those affected have high levels of sodium and chloride (salt) in their sweat.  More importantly, a thick, sticky mucous in the lungs causes persistent coughing, wheezing and frequent lung infections, including pneumonia. 

CF detection is done using a multiplex PCR - multiplex oligonucleotide ligation assay.  The PCR-OLA assay is followed by capillary gel electrophoresis for separation, detection, and data analysis.  A 15-plex PCR reaction of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is followed by a 60-plex OLA.  Electrophoresis separates the products from the three color, multiplex OLA in one lane of a four-color fluorescent genetic analyzer.   

PCR is performed per pursuant to a license agreement with Roche Molecular Systems.