CYSTIC FIBROSIS

We provide targeted DNA sequencing allowing us to focus specific areas of interest at a reduced price and faster delivery time. Our laboratory’s technology can accommodate small blood sample sizes, making it viable alternative to a trip to the phlebotomist and reducing the impact of blood-drawing on patients’ health.

CYSTIC FIBROSIS

Genetic Testing - Cystic Fibrosis

NEXT GENERATION SEQUENCING – GERMLINE MUTATION

Our Cystic Fibrosis 139-Variant Assay is a FDA cleared genetic testing assay. It is a qualitative in vitro diagnostic test that detects 139 clinically relevant cystic fibrosis disease-causing mutations and variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This assay is performed using genomic DNA isolated from human peripheral whole blood specimens.

The test is intended for carrier status testing in adults of reproductive age, followed by confirmatory diagnostic testing of newborns and children. It is also used as a diagnostic test for individuals suspected to have cystic fibrosis.

M1V
T338I
Q552X
3121-1G>A
CFTR dele2,3
1154insTC
R55sX
3272-26A>G
Q39X
S341P
A559T
L1065P
E60X
R347H
R560T
R1066C
P67L
R347P
R560K
R1066H
R75X
R352Q
1811+1.6kbA>G
L1077P
G85E
1213delT
1812-1G>A
W1089X
394delTT
1248+1G>A
E585X
Y1092X(C>A)
405+1 G>A
1259INSA
1898+1G>A
Y1092X(C>G)
406-1G>A
W401X(C.1202G>A)
1898+3A>G
M1101K
E92X
W401X(C.1203G>A)
2143DELT
E1104X
E92K
1341+1G>A
R709X
R1158X
Q98X
PolyTG/PolyT
K710X
R1162X
457TAT>G
1461ins4
2183delAA>G
3659delC
D110H
A455E
2184insA
S1196X
R117C
1525-01G>A
2184delA
W1204X (c.3611G>A)
R117H
S466X(C>A)
2307insA
W1204X (c.3612G>A)
Y122X
S466X(C>G)
L732X
3791delC
574delA
L467P
2347delG
3849+10kbC>T
621+1G>T
1548delG
R764X
G1244E
663delT
S489X
2585delT
3876delA
G178R
S492F
E822X
S1251N
711+1G>T
Q493X
2622+1G>A
3905insT
711+3A>G
1507del
E831X
W1282X
711+5 G>A
F508del
W846X
4005+1G>A
712-1 G>T
1677delTA
R851X
N1303K
H199Y
V520F
2711delT
4016insT
P205S
Q525X
2789+5G>A
Q1313X
L206W
1717-8G>A
Q890X
4209TGTT>AA
Q220X
1717-1G>A
L927P
CFTRdele22,23
852del22
G542X
S945L
4382delA
1078delT
S549R(c.1645A>C)
3007delG
I506V
G330X
S549R(c.1647T>G)
G970R
I507V
R334W
S549N
3120G>A
F508C
I336K
G551D
3120+1G>A

All tests are performed in Ayass BioScience, LLC. Ayass BioScience, LLC (DBA Ayass Lung Clinic, PLLC) is a CLIA certified laboratory. If you have any questions about Genetic Testing Next Generation Sequencing at Ayass BioScience, LLC, please call today at 972-668-6005 or fill out our contact form on the bottom of this page. We will answer any question you might have.