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CYSTIC FIBROSIS, CFTR GENE SQUENCING-139 VARIENTS (NGS)
Test CodeLAB12397
Alias/See Also
CF
CPT Codes
81220
Includes
Please see CF-Variant list below.
Preferred Specimen
One, 4mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3mL whole blood in an EDTA (lavender-top) tube
Other Acceptable Specimens
None
Transport Temperature
Refrigerated
Specimen Stability
Whole blood specimens can be stored for up to 30 days at 2-8°C
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Samples will be rejected if collected in a non-validated sample type, unlabeled container, clotted, leaking, and/or frozen. Heparinized samples are NOT accepted.
Methodology
Next Generation Sequencing (NGS)
Setup Schedule
This assay requires batch testing. Turn-around will be 17-21 days. For positive cases, preliminary results will be released and a final report will be issued after results are confirmed.
Reference Range
NO Clinically Relevant Variant(s) Detected
Clinical Significance
Indication: General routine preconception/reproductive screening.
CF Variant List:
CF Variant List:
| HGNC: ID | Gene symbol | Gene name | Chromosome location | |||
| HGNC:1884 | CFTR | CF transmembrane conductance regulator | 7q31.2 | |||
| Targeted CFTR variants | ||||||
| M1V (c.1A>G) | 663delT (c.531delT) | R352Q (c.1055G>A) | V520F (c.1558G>T) | 2183AA >G (c.2051_ 2052delAAinsG) | 3007delG (c.2875delG) | W1204X (c.3612G>A) |
| CFTRdele2,3 (c.54-5940_ 273+10250del21kb) | G178R (c.532G>A) | 1213delT (c.1081delT) | Q525X (c.1573C>T)† | 2184delA (c.2052delA) | G970R (c.2908G>C) | 3791delC (c.3659delC) |
| Q39X (c.115C>T) | 711+1G>T (c.579+1G>T) | 1248+1G>A (c.1116+1G>A) | 1717-8G>A (c.1585-8G>A) | 2184insA (c.2052_2053insA) | 3120G>A (c.2988G>A) | 3849+10kbC>T (c.3717+12191C>T) |
| E60X (c.178G>T) | 711+3A>G (c.579+3A>G) | 1259insA (c.1127_1128insA) | 1717-1G>A (c.1585-1G>A) | R709X (c.2125C>T) | 3120+1G>A (c.2988+1G>A) | G1244E (c.3731G>A) |
| P67L (c.200C>T) | 711+5G>A (c.579+5G>A) | W401X (c.1202G>A) | G542X (c.1624G>T) | K710X (c.2128A>T) | 3121-1G>A (c.2989-1G>A) | 3876delA (c.3744delA) |
| R75X (c.223C>T) | 712-1G>T (c.580-1G>T) | W401X (c.1203G>A) | S549R (c.1645A>C) | 2307insA (c.2175_2176insA) | 3272-26A>G (c.3140-26A>G) | S1251N (c.3752G>A) |
| G85E (c.254G>A) | H199Y (c.595C>T) | 1341+1G>A (c.1209+1G>A) | S549N (c.1646G>A) | L732X (c.2195T>G) | L1065P (c.3194T>C) | 3905insT (c.3773_3774insT) |
| 394delTT (c.262_263delTT) | P205S (c.613C>T) | 1461ins4 (c.1329_ 1330insAGAT) | S549R (c.1647T>G) | 2347delG (c.2215delG) | R1066C (c.3196C>T | W1282X (c.3846G>A) |
| 405+1G>A (c.273+1G>A) | L206W (c.617T>G) | A455E (c.1364C>A) | G551D (c.1652G>A) | R764X (c.2290C>T) | R1066H (c.3197G>A) | 4005+1G>A (c.3873+1G>A) |
| 406-1G>A (c.274-1G>A) | Q220X (c.658C>T) | 1525-1G>A (c.1393-1G>A) | Q552X (c.1654C>T) | 2585delT (c.2453delT) | L1077P (c.3230T>C) | 4016insT (c.3884_3885insT) |
| E92X (c.274G>T) | 852del22 (c.720_ 741delAGGGAGAAT GATGATGAAGTAC) | S466X (C>A) (c.1397C>A) | R553X (c.1657C>T) | E822X (c.2464G>T) | W1089X (c.3266G>A) | N1303K (c.3909C>G) |
| E92K (c.274G>A) | 1078delT (c.948delT) | S466X (C>G) (c.1397C>G) | A559T (c.1675G>A) | 2622+1G>A (c.2490+1G>A) | Y1092X(C>A) (c.3276C>A) | Q1313X (c.3937C>T) |
| Q98X (c.292C>T) | G330X (c.988G>T) | L467P (c.1400T>C) | R560T (c.1679G>C) | E831X (c.2491G>T) | Y1092X(C>G) (c.3276C>G) | 4209TGTT>AA (c.4077_ 4080delTGTTinsAA) |
| 457TAT>G (c.325_327delTATinsG) | R334W (c.1000C>T) | 1548delG (c.1418delG)† | R560K (c.1679G>A) | W846X (c.2537G>A) | M1101K (c.3302T>A) | CFTRdele22,23 (c.3964-78_ 4242+577del) |
| D110H (c.328G>C) | I336K (c.1007T>A) | S489X (c.1466C>A) | 1811+1.6kbA>G (c.1679+1.6kbA>G) | R851X (c.2551C>T) | E1104X (c.3310G>T) | 4382delA (c.4251delA) |
| R117C (c.349C>T) | T338I (c.1013C>T) | S492F (c.1475C>T) | 1812-1G>A (c.1680-1G>A) | 2711delT (c.2583delT) | R1158X (c.3472C>T) | PolyTG/PolyT |
| R117H (c.350G>A) | S341P (c.1021T>C) | Q493X (c.1477C>T) | E585X (c.1753G>T) | 2789+5G>A (c.2657+5G>A) | R1162X (c.3484C>T) | I506V (c.1516A>G) |
| Y122X (c.366T>A) | 1154insTC (c.1022_ 1023insTC) | I507del (c.1519_ 1521delATC) | 1898+1G>A (c.1766+1G>A) | Q890X (c.2668C>T) | 3659delC (c.3528delC) | I507V (c.1519A>G) |
| 574delA (c.442delA) | R347H (c.1040G>A) | F508del (c.1521_ 1523delCTT) | 1898+3A>G (c.1766+3A>G) | L927P (c.2780T>C) | S1196X (c.3587C>G) | F508C (c.1523T>G) |
| 621+1G>T (c.489+1G>T) | R347P (c.1040G>C) | 1677delTA (c.1545_ 1546delTA) | 2143delT (c.2012delT) | S945L (c.2834C>T) | W1204X (c.3611G>A) |
Performing Laboratory
West Virginia University Hospital, Inc.
