Skip to main content

Specimen Collection Manual and Test Catalog

  or
  or
  or

MYGENVAR CYSTIC FIBROSIS-CFTR GENE, CARRIER SCREENING, NEXT GENERATION SEQUENCING

Geisinger Epic Procedure Code:  LAB6018    Geisinger Epic ID:  183532

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Alternate collection container: 
6 mL pink-top K2 EDTA tube
Specimen required: 

3 mL lavendar EDTA whole blood; minimum 0.5 mL.


Special notes: 

NO SHARED SPECIMENS WITH OTHER LABORATORY DEPARTMENTS. May be combined with other Molecular Diagnostic tests. For genetic testing, original tube required. Isolated/extracted nucleic acids are acceptable only from CLIA-certified laboratories or a laboratory meeting equivalent requirements as determined by CAP and/or CMS.



SPECIMEN PROCESSING
Processing instructions: 

Mix well. Do not centrifuge.


Transport temperature: 

Refrigerated: 2-8°C


Specimen stability: 

Refrigerated (2-8°C): 7 days


Rejection criteria: 

Specimen collected in heparin (green-top) tube will be rejected. Frozen whole blood specimens will be rejected. Stability limits exceeded. Shared or comingled specimens.



TEST DETAILS
Reference interval: 

Negative. No variant is detected in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene carrier screen test.


CPT code(s):  81220
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 

This test detects cystic fibrosis (CF)-causing variants:

Variant (Display Name)Nucleotide Change (DNA Change)Amino Acid ChangeLegacy Name
M1VNM_000492.4: c.1A>Gp.Met1Val 
Q2*NM_000492.4: c.4C>Tp.Gln2TerQ2X
 NM_000492.4:c.54-5940_ 273+10250delp.?CFTR dele2,3
Q39*NM_000492.4:c.115C>Tp.Gln39Ter 
E60* NM_000492.4:c.178G>Tp.Glu60Ter 
P67L NM_000492.4:c.200C>Tp.Pro67Leu 
R75* NM_000492.4:c.223C>Tp.Arg75Ter 
G85E NM_000492.4:c.254G>Ap.Gly85Glu 
L88Ifs*22NM_000492.4:c.262_263delTTp.Leu88IlefsTer22394delTT 
G91RNM_000492.4:c.271G>Ap.Gly91ArgG91R
 NM_000492.4:c.273+1G>Ap.?405+1G>A (c.273+1G>A)
 NM_000492.4:c.274-1G>Ap.?406-1G>A 
E92K NM_000492.4:c.274G>Ap.Glu92Lys 
E92* NM_000492.4:c.274G>Tp.Glu92Ter  
Q98*NM_000492.4:c.292C>Tp.Gln98Ter 
Q98RNM_000492.4:c.293A>Gp.Gln98ArgQ98R
 NM_000492.4:c.313delp.Ile105SerfsTer2444delA
Y109Gfs*4NM_000492.4:c.325_327delTATinsGp.Tyr109GlyfsTer4457TAT>G 
D110H NM_000492.4:c.328G>Cp.Asp110His 
R117C NM_000492.4:c.349C>Tp.Arg117Cys 
R117H NM_000492.4:c.350G>Ap.Arg117His 
Y122* NM_000492.4:c.366T>Ap.Tyr122Ter 
I148Lfs*5NM_000492.4:c.442delAp.Ile148LeufsTer5574delA 
 NM_000492.4:c.489+1G>Tp.?621+1G>T 
I177Mfs*12NM_000492.4:c.531delTp.Ile177MetfsTer12663delT 
G178R NM_000492.4:c.532G>Ap.Gly178Arg 
F191VNM_000492.4:c.571T>Gp.Phe191ValF191V
 NM_000492.4:c.579+1G>Tp.?711+1G>T 
 NM_000492.4:c.579+3A>Gp.?711+3A>G 
 NM_000492.4:c.579+5G>Ap.?711+5G>A 
 NM_000492.4:c.580-1G>Tp.?712-1G>T 
H199Y NM_000492.4:c.595C>Tp.His199Tyr 
P205S NM_000492.4:c.613C>Tp.Pro205Ser 
L206W NM_000492.4:c.617T>Gp.Leu206Trp 
L218*NM_000492.4:c.653T>Ap.Leu218TerL218X
Q220* NM_000492.4:c.658C>Tp.Gln220* 
V232DNM_000492.4:c.695T>Ap.Val232AspV232D
G241Efs*13NM_000492.4:c.720_ 741delAGGGAGAAT GATGATGAAGTACp.Gly241GlufsTer13 852del22 
N268Ifs*17NM_000492.4:c.803delp.Asn268IlefsTer17935delA
Q290*NM_000492.4:c.868C>Tp.Gln290TerQ290X
F316Lfs*12NM_000492.4:c.948delTp.Phe316LeufsTer121078delT 
G330* NM_000492.4:c.988G>Tp.Gly330* 
R334W NM_000492.4:c.1000C>Tp.Arg334Trp 
I336K NM_000492.4:c.1007T>Ap.Ile336Lys 
T338INM_000492.4:c.1013C>Tp.Thr338Ile 
S341P NM_000492.4:c.1021T>Cp.Ser341Pro 
F342Hfs*28NM_000492.4:c.1022_ 1023insTCp.Phe342HisfsTer281154insTC 
C343*NM_000492.4:c.1029delp.Cys343Ter1161delC
R347H NM_000492.4:c.1040G>Ap.Arg347His 
R347P NM_000492.4:c.1040G>Cp.Arg347Pro 
R352Q NM_000492.4:c.1055G>Ap.Arg352Gln 
W361Gfs*8NM_000492.4:c.1081delTp.Trp361GlyfsTer81213delT 
 NM_000492.4:c.1116+1G>Ap.?1248+1G>A 
Q378Afs*4NM_000492.4:c.1127_1128insAp.Gln378AlafsTer41259insA 
N386Ifs*3NM_000492.4:c.1155_1156dupp.Asn386IlefsTer31288insTA
W401* NM_000492.4:c.1202G>Ap.Trp401Ter  
W401* NM_000492.4:c.1203G>Ap.Trp401Ter 
 NM_000492.4:c.1209+1G>Ap.?1341+1G>A 
I444Rfs*3NM_000492.4:c.1329_ 1330insAGATp.Ile444ArgfsTer31461ins4 
A455E NM_000492.4:c..1364C>Ap.Ala455Glu 
V456ANM_000492.4:c.1367T>Cp.Val456AlaV456A
G458Dfs*11NM_000492.4:c.1373delp.Gly458AspfsTer111504delG
 NM_000492.4:c.1393-1G>Ap.?1525-1G>A 
S466*  NM_000492.4:c.1397C>Ap.Ser466Ter 
S466* NM_000492.4:c.1397C>Gp.Ser466Ter 
L467P NM_000492.4:c.1400T>Cp.Leu467Pro 
G473Efs*54NM_000492.4:c.1418delGp.Gly473GlufsTer541548delG  
S489* NM_000492.4:c.1466C>Ap.Ser489Ter 
S492F NM_000492.4:c.1475C>Tp.Ser492Phe 
Q493* NM_000492.4:c.1477C>Tp.Gln493Ter 
I506V NM_000492.4:c.1516A>Gp.Ile506Val 
I507V NM_000492.4:c.1519A>Gp.Ile507Val 
I507del NM_000492.4:c.1519_1521delATCp.Ile507del 
F508del NM_000492.4:c.1521_ 1523delCTTp.Phe508del 
F508C NM_000492.4:c.1523T>Gp.Phe508Cys 
Y515*NM_000492.4:c.1545_ 1546delTAp.Tyr515Ter1677delTA 
V520F NM_000492.4:c.1558G>Tp.Val520Phe 
C524*NM_000492.4:c.1572C>Ap.Cys524TerC524X
Q525*NM_000492.4:c.1573C>Tp.Gln525Ter 
 NM_000492.4:c.c.1584+1G>Ap.?1716+1G>A
 NM_000492.4:c.1585-8G>Ap.?1717-8G>A 
 NM_000492.4:c.1585-1G>Ap.?1717-1G>A 
G542* NM_000492.4:c.1624G>Tp.Gly542Ter 
S549R NM_000492.4:c.1645A>Cp.Ser549Arg 
S549N NM_000492.4:c.1646G>Ap.Ser549Asn 
S549R NM_000492.4:c.1647T>Gp.Ser549Arg 
G551SNM_000492.4:c.1651G>Ap.Gly551SerG551S
G551D NM_000492.4:c.1652G>Ap.Gly551Asp 
Q552* NM_000492.4:c.1654C>Tp.Gln552Ter 
R553* NM_000492.4:c.1657C>Tp.Arg553Ter 
L558SNM_000492.4:c.1673T>Cp.Leu558SerL558S
A559T NM_000492.4:c.1675G>Ap.Ala559Thr 
R560T NM_000492.4:c.1679G>Cp.Arg560Thr 
R560K NM_000492.4:c.1679G>Ap.Arg560Lys 
 NM_000492.4:c.1679+1G>Ap.?1811+1G->A
 NM_000492.4:c.1679+1.6kbA>Gp.?1811+1.6kbA>G 
R560SNM_000492.4:c.1680A>Cp.Arg560SerR560S
 NM_000492.4:c.1680-1G>Ap.?1812-1G>A
A561ENM_000492.4:c.1682C>Ap.Ala561GluA561E
D565Mfs*7NM_000492.4:c.1692delp.Asp565MetfsTer71824delA
Y569DNM_000492.4:c.1705T>Gp.Tyr569AspY569D
E585* NM_000492.4:c.1753G>Tp.Glu585Ter 
 NM_000492.4:c.1766+1G>Ap.?1898+1G>A (c.1766+1G>A)
 NM_000492.4:c.1766+3A>Gp.?1898+3A>G 
 NM_000492.4:c.1766+5G>Tp.?1898+5G->T
A613TNM_000492.4:c.1837G>Ap.Ala613ThrA613T
G628RNM_000492.4:c.1882G>Ap.Gly628ArgG628R
L671*NM_000492.4:c.2012delTp.Leu671Ter2143delT 
K684Sfs*38NM_000492.4:c.2051_ 2052delAAinsGp.Lys684SerfsTer382183AA >G 
Q685Tfs*4NM_000492.4:c.2052_2053insAp.Gln685ThrfsTer42184insA 
K684Nfs*38NM_000492.4:c.2052delAp.Lys684AsnfsTer382184delA 
R709* NM_000492.4:c.2125C>Tp.Arg709Ter 
K710* NM_000492.4:c.2128A>Tp.Lys710Ter 
E726Rfs*4NM_000492.4:c.2175_2176insAp.Glu726ArgfsTer42307insA 
L732* NM_000492.4:c.2195T>Gp.Leu732Ter 
V739Yfs*16NM_000492.4:c.2215delGp.Val739TyrfsTer162347delG 
R764* NM_000492.4:c.2290C>Tp.Arg764Ter 
R785*NM_000492.4:c.2353C>Tp.Arg785TerR785X
R792*NM_000492.4:c.2374C>Tp.Arg792TerR792X
L818Wfs*3NM_000492.4:c.2453delTp.Leu818TrpfsTer32585delT 
E822* NM_000492.4:c.2464G>Tp.Glu822Ter 
 NM_000492.4:c.2490+1G>Ap.?2622+1G>A 
E831* NM_000492.4:c.2491G>Tp.Glu831Ter 
W846* NM_000492.4:c.2537G>Ap.Trp846Ter 
R851* NM_000492.4:c.2551C>Tp.Arg851Ter 
F861Lfs*3NM_000492.4:c.2583delTp.Phe861LeufsTer32711delT 
 NM_000492.4:c.2657+5G>Ap.?2789+5G>A 
Q890* NM_000492.4:c.2668C>Tp.Gln890Ter 
Y913*NM_000492.4:c.2739T>Ap.Tyr913TerY913X
L927P NM_000492.4:c.2780T>Cp.Leu927Pro 
S945L NM_000492.4:c.2834C>Tp.Ser945Leu 
A959Hfs*9NM_000492.4:c.2875delGp.Ala959HisfsTer93007delG 
G970R NM_000492.4:c.2908G>Cp.Gly970Arg 
G970DNM_000492.4:c.2909G>Ap.Gly970AspG970D
 NM_000492.4:c.2988+1G>Ap.?3120+1G>A 
 NM_000492.4:c.2988G>Ap.Gln996=3120G>A 
 NM_000492.4:c.2989-1G>Ap.?3121-1G>A 
 NM_000492.4:c.3067_3072delp.Ile1023_Val1024del3199del6
T1036NNM_000492.4:c.3107C>Ap.Thr1036AsnT1036N
 NM_000492.4:c.3140-26A>Gp.?3272-26A>G 
L1065P NM_000492.4:c.3194T>Cp.Leu1065Pro 
R1066C NM_000492.4:c.3196C>Tp.Arg1066Cys 
R1066H NM_000492.4:c.3197G>Ap.Arg1066His 
L1077P NM_000492.4:c.3230T>Cp.Leu1077Pro 
W1089* NM_000492.4:c.3266G>Ap.Trp1089Ter 
Y1092*NM_000492.4:c.3276C>Ap.Tyr1092Ter 
Y1092* NM_000492.4:c.3276C>Gp.Tyr1092Ter 
W1098CNM_000492.4:c.3294G>Cp.Trp1098CysW1098C
M1101K NM_000492.4:c.3302T>Ap.Met1101Lys 
E1104* NM_000492.4:c.3310G>Tp.Glu1104Ter  
S1118FNM_000492.4:c.3353C>Tp.Ser1118PheS1118F
R1158* NM_000492.4:c.3472C>Tp.Arg1158Ter  
R1162* NM_000492.4:c.3484C>Tp.Arg1162Ter 
K1177fs*15NM_000492.4:c.3528delCp.Lys1177SerfsTer153659delC
S1196* NM_000492.4:c.3587C>Gp.Ser1196Ter 
W1204* NM_000492.4:c.3611G>Ap.Trp1204Ter 
W1204*NM_000492.4:c.3612G>Ap.Trp1204Ter 
T1220Kfs*8NM_000492.4:c.3659delCp.Thr1220LysfsTer83791delC 
 NM_000492.4:c.3717+5G>Ap.?3849+5G-A
 NM_000492.4:c.3717+12191C>Tp.?3849+10kbC>T 
G1244E NM_000492.4:c.3731G>Ap.Gly1244Glu 
K1250Rfs*9NM_000492.4:c.3744delAp.Lys1250ArgfsTer93876delA 
S1251N NM_000492.4:c.3752G>Ap.Ser1251Asn 
S1255*NM_000492.4:c.3764C>Ap.Ser1255TerS1255X
L1258Ffs*7NM_000492.4:c.3773_3774insTp.Leu1258PhefsTer73905insT 
D1270Mfs*8NM_0000492.4:c.3808delp.Asp1270MetfsTer83940delG
W1282* NM_000492.4:c.3846G>Ap.Trp1282Ter 
 NM_000492.4:c.3873+1G>Ap.?4005+1G>A
S1297Ffs*5NM_000492.4:c.3884_3885insTp.Ser1297PhefsTer54016insT 
N1303K NM_000492.4:c.3909C>Gp.Asn1303Lys 
Q1313* NM_000492.4:c.3937C>Tp.Gln1313Ter 
 NM_000492.4:c.3964-78_ 4242+577delp.?CFTRdele22,23 
V1360Tfs*3NM_000492.4:c.4077_ 4080delTGTTinsAAp.Val1360ThrfsTer34209TGTT>AA 
E1418Rfs*14NM_000492.4:c.4251delAp.Glu1418ArgfsTer144382delA 
 NM_000492.4:c.1210-12T[5_9]  5T/7T/9T PolyT 
 NM_000492.4:c.1210-34TG[9_13] PolyTG

Methodology: 
Next Generation Sequencing
Polymerase Chain Reaction (PCR)
Synonyms: 

CF PCR, cystic fibrosis, cystic fibrosis PCR, cystic fibrosis mutation, CF mutation, CF genotype, cystic fibrosis genotype, CF DNA, cystic fibrosis DNA, CFTR, cystic fibrosis transmembrane conductance.


Clinical significance: 

This test is used for cystic fibrosis (CF) carrier screening in adults of reproductive age, in confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected CF.


Doctoral Director(s): 
Yi Ding MD, PhD
Review Date:  04/08/2025

Performing Locations