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Updates to Cystic Fibrosis Pathogenic Variant Analysis Testing

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

Specimen Requirements:

4 mL, whole blood

Lavender BD Hemogard™ K2EDTA Tube

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