If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

If both members of the couple have been determined to be CF carriers, prenatal testing can be performed on an amniotic fluid sample as targeted familial variant analysis (see test code: FMLIS) or a send-out test. Diagnostic testing can be performed upon request when appropriate (such as confirmation of mutations identified on newborn screening).Please contact the Institute for Genomic Medicine Lab (614) 722-5321 for more information.

Cystic fibrosis (CF) is an autosomal recessive disorder caused by the presence of pathogenic, loss-of-function genetic mutation (also known as genetic variant) in both alleles of the CFTR gene. Classic CF is characterized by chronic lung disease, gastrointestinal malabsorption, pancreatic insufficiency, and obstructive azoospermia in males. Non-classic CF (previously known as atypical 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.

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.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

If both members of the couple have been determined to be CF carriers, prenatal testing can be performed on an amniotic fluid sample as targeted familial variant analysis (see test code: FMLIS) or a send-out test. Diagnostic testing can be performed upon request when appropriate (such as confirmation of mutations identified on newborn screening).Please contact the Institute for Genomic Medicine Lab (614) 722-5321 for more information.

Cystic fibrosis (CF) is an autosomal recessive disorder caused by the presence of pathogenic, loss-of-function genetic mutation (also known as genetic variant) in both alleles of the CFTR gene. Classic CF is characterized by chronic lung disease, gastrointestinal malabsorption, pancreatic insufficiency, and obstructive azoospermia in males. Non-classic CF (previously known as atypical 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.

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.

Cystic fibrosis (CF) is an autosomal recessive disorder caused by the presence of pathogenic, loss-of-function genetic mutation (also known as genetic variant) in both alleles of the CFTR gene. Classic CF is characterized by chronic lung disease, gastrointestinal malabsorption, pancreatic insufficiency, and obstructive azoospermia in males. Non-classic CF (previously known as atypical 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.

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.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

If both members of the couple have been determined to be CF carriers, prenatal testing can be performed on an amniotic fluid sample as targeted familial variant analysis (see test code: FMLIS) or a send-out test. Diagnostic testing can be performed upon request when appropriate (such as confirmation of mutations identified on newborn screening).Please contact the Institute for Genomic Medicine Lab (614) 722-5321 for more information.

Cystic fibrosis (CF) is an autosomal recessive disorder caused by the presence of pathogenic, loss-of-function genetic mutation (also known as genetic variant) in both alleles of the CFTR gene. Classic CF is characterized by chronic lung disease, gastrointestinal malabsorption, pancreatic insufficiency, and obstructive azoospermia in males. Non-classic CF (previously known as atypical 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.

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.