Cystic Fibrosis Expanded Screen - CFvantage

The Cystic Fibrosis Expanded Screen - CFvantage test contains 1 test with 5 biomarkers.

CFvantage® Cystic Fibrosis Expanded Screen

Clinical Significance

The CFvantage® Cystic Fibrosis Expanded Screen analyzes 155 mutations that have been proven to cause Cystic Fibrosis. This panel includes the 23 mutations recommended by the American College of Obstetricians and Gynecologists (ACOG) for screening of all child bearing age women. ACOG also recommends that patients with a family history of Cystic Fibrosis, pregnant women with ultrasound finding that indicate an increased risk of Cystic Fibrosis (echogenic bowel or dilated loops of the bowl), and males with a family history of infertility should be offered this screen.

CF Mutations Detected in the CFvantage® Cystic Fibrosis Expanded Screen 

Conventional Name
296+2T>A
394delTT
405+1G>A
406-1G>A
444delA
457TAT>G
574delA
621+1G>Ta
663delT
711+1G>Ta
711+3A>G
711+5G>A
712-1G>T
852del22
935delA
936delTA
1078delT
1154insTC
1161delC
1213delT
1248+1G>A
1259insA
1288insTA
1341+1G>A
1461ins4
1525-1G>A
1548delG
1609delCA
1677delTA
1717-1G>Aa
1717-8G>A
1811+1.6kbA>G
1812-1G>A
1898+1G>Aa
1898+1G>T
1898+3A>G
1898+5G>T
2043delG
2055del9>A
2105del13ins5
2108delA
2143delT
2183AA>G
2184delAa
2184insA
2307insA
2347delG
2585delT
2622+1G>A
2711delT
2789+5G>Aa
2869insG
3007delG
3120+1G>Aa
3120G>A
3121-1G>A
3171delC
3199del6
3272-26A>G
3659delCa
3667del4
3791delC
3821delT
3849+10kbC>Ta
3876delA
3905insT
4005+1G>A
4016insT
4209TGTT>AA
4382delA
A455Ea
A559T
C524X
CFTRdele2,3
CFTRdele22,23
D110H
D579G
E60X
E92K
E92X
E585X
E822X
E831X
E1104X
F311del
F508dela
G85Ea
G91R
G178R
G330X
G480C
G542Xa
G551Da
G970R
G1244E
H199Y
I336K
I507dela
I1234V
K710X
L206W
L467P
L732X
L927P
L1065P
L1077P
L1093P
M1V
M1101K
N1303Ka
P67L
P205S
P574H
Q39X
Q98X
Q220X
Q493X
Q525X
Q552X
Q890X
Q1238X
Q1313X
R75X
R117C
R117Ha,b
R334Wa
R347H
R347Pa
R352Q
R553Xa
R560K
R560Ta
R709X
R764X
R851X
R1066C
R1066H
R1128X
R1158X
R1162Xa
R1283M
S341P
S466X
S489X
S492F
S549N
S549R
S945L
S1196X
S1251N
S1255X
T338I
V520F
W401X
W846X
W1089X
W1145X
W1204X
W1282Xa
Y122X
Y1092X

a ACMG/ACOG-recommended mutation.1
b The variants 5T/7T/9T are included as needed (see Interpretive Information). 5T/7T/9T may be of clinical significance in congenital absence of the vas deferens (CAVD) and other disorders.

http://www.questdiagnostics.com/hcp/intguide//Genetics/cysticfibrosis/TS_CFvantage_CF_Expanded_Screen_Table_1.pdf

 

The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

Also known as: CFVANTAGE CYSTIC FIBROSIS EXPANDED SCR

ADDITIONAL INFORMATION

CF RESULT

ETHNICITY:

INTERPRETATION

MUTATIONS ANALYZED

*Process times are an estimate and are not guaranteed. The lab may need additional time due to weather, holidays, confirmation/repeat testing, or equipment maintenance.