Cystic Fibrosis Mutation Analysis


Sunquest Code:CFMA  
Epic Code:LAB3370Epic Name:Cystic Fibrosis Mutation Analysis
Synonyms:CF-Delta F508; Cystic Fibrosis - Delta F508; CF70; CMFA
Methodology:PCR amplification and analysis of DNA
Test Includes:CFMA mutation extraction; CFMA mutation amplificaton2; CFMA mutation amplification 2; CFMA mutation analysis; CFMA mutation separation
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 5-8 days.
Special Instructions:

Patients must be counseled regarding this test before and after results are obtained. Test should be ordered through Cystic Fibrosis Clinic, genetic counselor, or medical geneticist. Counseling is available from a genetic counselor at 612-624-8948. Include following information on request form:

·    Patient ethnicity

·    Provide indications for test

·    Family history

·    Referring physician; name and telephone number

A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.

 

Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood, chorionic villus sampling or cultured amniocytes
Optimal Volume:30 mL blood; 10-15 mg chorionic villus sampling; 15 mL amniotic fluid
Minimum\Peds Volume:10 mL blood; 10 mg chorionic villus sampling; 5 mL amniotic fluid
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
After Care:After testing, patient must again be counseled regarding the results.
Causes for Rejection:Blood specimen more than five days old; non-viable cells from culture; necrotic tissue


Processing and Shipping

Specimen Processing:Do not centrifuge. Store in refrigerator.
Shipping Instructions:Ship at refrigerated temperature. Must arrive within 24 hours. Must arrive Mon-Sat.
Stability:

After hours and weekends, store blood/fluid at 4C and CVS on dry ice. Ship Mon-Fri (indicate Saturday delivery on airbill if applicable). Genzyme's Fed Ex account number is 1008-3276-3.

Ship to:

Integrated Genetics

3400 Computer Drive

Westborough, MA 01581

 

Test Performed at or Referral Lab Lab Sendouts  (Genzyme (Integrated Genetics), Massachusetts)
Referral Lab number:530


Interpretive

Reference Range:

By report.

DNA is tested for the following mutations:

DF508

R347P

2789+5G-A

DI507

R352Q

2869insG

A455E

R553X

2909delT

A559T

R560T

3120+1G-A

C524X

S1196X

3120G-A

D127ON

S1255X

3358delAC

E60X

S364P

3659delC

G178R

S549N

3662delA

G330X

S549R

3750delAG

G542X

V520F

3791delC

G551D

W1089X

3821deIT

G85E

W1282X

3849+1OkbC-T

I1203V

W1310X

3849+4A-G

I148T

W1316X

3905insT

K710X

Y1092X

405+1G-A

N1303K

Y122X

444delA

P574H

Y563D

556delA

Q1238X

1078deIT

574delA

Q493X

1677deITA

621+1G-T

Q890X

1717-1G-A

711+1G-T

R1158X

1812-1G-A

 

R1162X

1898+1G-A

 

R117H

2043del-G

 

R334W

2183delAA-G

 

R347H

2184delA

 

The 70 mutations analyzed account for approximately 90% of all cystic fibrosis (CF) mutations in Caucasian individuals of Northern European descent.

 

 



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