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Laboratory Test Directory

Cystic Fibrosis (CF) Common Mutation Panel

Components

Name Method Department Units
Cystic Fibrosis (CF) Common Mutation Panel Polymerase chain reaction (PCR)
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Frozen specimen
  • Wrong collection tube

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended. Submission of patient's ethnicity and family history information regarding CF is required for result interpretation.

Cystic fibrosis (CF) is an autosomal recessive disorder caused by the presence of loss-of-function mutation in both alleles of the CFTR gene. Classic CF is characterized by chronic lung disease, gastrointestinal malabsorption, pancreatic insufficiency, and obstructive azoospermia in males. Atypical (non-classic) CF is characterized by milder symptoms with findings often limited to single organ system, such as recurrent pancreatitis, recurrent sinusitis, bilateral absence of vas deferens, nasal polyposis, or bronchiectasis.

This CF common mutation panel includes 60 common mutations in the CFTR gene that are known to be pathogenic, 23 of which are recommended by the ACMG/ACOG for CF carrier screening. This test can be used as a reproductive carrier screening for couples in prenatal/preconceptional care, as a carrier screening for individuals with family history of CF, or as a diagnostic testing for patients with symptoms of classic CF. CF mutation detection rates of this 60 mutation panel are: 96% in Ashkenazi Jewish, 91% in European Caucasian, 84% in Hispanic, 73% in African American, and 55% in Asian American population.

If both members of the couple have been determined to be CF carriers, prenatal testing can be performed on amniotic fluid sample. Diagnostic testing can be performed upon request when appropriate (such as confirmation of mutations identified on newborn screening). Please contact Molecular Genetics Lab (614) 722-2866 for more information.

Mutations Tested: deltaF508 (c.1521_1523delCTT), deltaI507 (c.1519_1521delATC), G542X (c.1624G>T), G85E (c.254G>A), R117H (c.350G>A), 621+1G>T (c.489+1G>T), 711+1G>T (c.579+1G>T), R334W (c.1000C>T), R347P (c.1040G>C), A455E (c.1364C>A), 1717-1G>A (c.1585-1G>A), R560T (c.1679G>C), R553X (c.1657C>T), G551D (c.1652G>A), 1898+1G>A (c.1766+1G>A), 2184delA (c.2052delA), 2789+5G>A (c.2657+5G>A), 3120+1G>A (c.2988+1G>A), R1162X (c.3484C>T), 3659delC (c.3528delC), 3849+10kbC>T (c.3717+12191C>T), W1282X (c.3846G>A), N1303K (c.3909C>G), 1078delT (c.948delT), 394delTT (c.262_263delTT), Y122X (c.366T>A), R347H (c.1040G>A), V520F (c.1558G>T), A559T (c.1675G>A), S549N (c.1646G>A), S549R (c.1647T>G), 1898+5G>T (c.1766+5G>T), 2183AA>G (c.2051_2052delAAinsG), 2307insA (c.2175_2176insA), Y1092X (c.3276C>A and c.3276C>G), M1101K (c.3302T>A), S1255X (c.3607A>G and C.3764C>A), 3876delA (c.3744delA), 3905insT (c.3773_3774insT), CFTR del e2,3 (c.54-5940_273+10250del21kb), W1089X (c.3266G>A), 1677delTA (c.1545_1546delTA), D1152H (c.3454G>C), R1158X (c.6472C>T), G178R (c.532G>A), 3791delC (c.3659delC), L206W (c.617T>G), E60X (c.178G>T), R75X (c.223C>T), Q493X (c.1477C>T), 2055del9>A (c.1923_1931del9insA), S1196X (c.3587C>G), 935delA (c.803delA), 2143delT (c.2012delT), K710X (c.2128A>T), G330X (c.988G>T), Q890X (c.2668C>T), R1066C (c.3196C>T), 3199del6 (c.3067_3072delATAGTG), 406-1G>A (c.274-1G>A).

The above mutations are listed according to the legacy nomenclature; the standard nomenclature is listed in parentheses. For specimens positive for R117H, the IVS8 poly-T tract status (5T/7T/9T) will also be reported. Poly-T tract status will be also reported if the provided study indication includes male infertility or atypical CF. 

Forms

Lab Form

CPT Code

  • 81220