New & Updated Tests
Updates to Cystic Fibrosis Pathogenic Variant Analysis (CFMDX) Testing
As of November 27, 2018, Cleveland Clinic Laboratories’ Cystic Fibrosis Carrier Screening and Diagnosis laboratory developed test has been updated with several new features.
The updated version of this test includes all 23 variants recommended for universal screening by the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG), as well as all variants included in the Ohio Newborn Screening Panel.
Additional changes include:
• The total number of variants, both observable and reportable, will increase from 139 to 142.
• Additionally, the mutation detection method will change, resulting in a decreased test price.
• Turnaround time for testing will remain at 10 days.
• The new report includes a table of known detection rates and residual carrier risk based on ethnicity.
Testing Details
Test Name:
Cystic Fibrosis Pathogenic Variant Analysis (CFMDX)
CPT Code:
81220
Turnaround Time:
10 Days
Indications for Use:
• General population cystic fibrosis carrier screening in all ethnicities
• Carrier screening for patients with known family history of cystic fibrosis
• Carrier screening in partners of known cystic fibrosis carriers
• Abnormal newborn screen confirmation of CFTR variant(s)
• Molecular testing of patients with suspected cystic fibrosis
Legacy names of the 142 pathogenic variants and 3 conditionally-reported variants are listed below in alphabetical order:
1
1078delT
1154insTC
1213delT
1248+1G>A
1259insA
1341+1G>A
1461ins4
1525-1G>A
1548delG
1677delTA
1717-1G>A
1717-8G>A
1811+1.6kbA>G
1812-1G>A
1898+1G>A
1898+3A>G
1898+5G>A
1898+5G>T
2
2055del9>A
2143delT
2183AAtoG
2184delA
2184insA
2307insA
2347delG
2585delT
2622+1G>A
2711delT
2789+5G>A
3
394delTT
3007delG
3120+1G>A
3120G>A
3121-1G>A
3199del6
3272-26A>G
3659delC
3791delC
3849+10KbC>T
3876delA
3905insT
4
405+1G>A
406-1G>A
4005+1G>A
4016insT
4209TGTT>AA
4382delA
457TAT>G
5
574delA
6
621+1G>T
663delT
7
711+1G>T
711+3A>G
711+5G>A
712-1G>T
8
852del22
9
935delA
A
A455E
A559T
C
CFTRdele2,3
CFTRdele22,23
D
D110H
D1152H
deltaF508
deltaI507
E
E1104X
E585X
E60X
E822X
E831X
E92K
E92X
F
F508C
G
G1244E
G1349D
G178R
G330X
G542X
G551D
G85E
G970R
H
H199Y
I
I336K
K
K710X
L
L1065P
L1077P
L206W
L467P
L732X
L927P
M
M1101K
M1V
N
N1303K
P
P205S
P67L
Q
Q1313X
Q220X
Q39X
Q493X
Q525X
Q552X
Q890X
Q98X
R
R1066C
R1066H
R1158X
R1162X
R117C
R117H
R334W
R347H
R347P
R352Q
R553X
R560K
R560T
R709X
R75X
R764X
R851X
S
S1196X
S1251N
S1255X
S341P
S466X
S489X
S492F
S549N
S549R-CGT
S549R-AGG
S945L
T
T338I
V
V520F
W
W1089X
W1204X (3611)
W1204X (3612)
W1282X
W401X
W846X
Y
Y1092X
Y1092X
Y122X
Conditionally Reported:
Poly T
I506V
I507V