Molecular Test Listing

Molecular Requisition

CYSTIC FIBROSIS:

Cystic Fibrosis (CF) is an autosomal recessive disease affecting secretory organs, especially the lungs and digestive tract. In the U.S., 1 in 20 Caucasians, 1 in 40 African-Americans and 1 in 60 Hispanics are carriers. One in 400 Caucasian couples are at risk of having a child with CF. One in 2400 children is born with CF, primarily to parents with no known family history of CF.

The gene for CF (CFTR) is located on chromosome 7 and is involved in salt regulation. Over 600 mutations have been identified but 25 mutations represent 90% of the incidences  in Caucasians. Of those, DF508, represents 70% of the mutations in persons of European and African-American heritage. In the Hispanic population the mutational frequency of the panel is about 60%.  Unrealized CF or CF carrier status can also result in the absence of the vas deferens in men leading to infertility.

• Preconception screening of Caucasian couples as recommended by ACOG.
• Couples with a family history of CF that wish to undergo prenatal testing.
• Newborns with failure to thrive or other suggestive clinical symptoms.

• Children with abnormal or borderline abnormal sweat tests.

• Children with recurrent pneumonia.

• Men with a history of infertility.

• A fetus with evidence of echogenic bowel upon ultrasound.

• Individuals at risk who wish prenatal diagnosis.

• Direct Mutation: PCR amplification, followed by allele specific reverse hybridization.
• Linkage Studies:  Linkage studies are available in families with the necessary key family members, in which direct testing cannot detect both mutations. Linkage testing is predictive with an accuracy level of 98-99.9%. Contact the laboratory for information and instructions.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     8 working days

CPT CODES: