Cystic Fibrosis Mutation Analysis
| Abbrev Code: | CFMA | ||
| Order Code: | LAB3370 | Order Name: | Cystic Fibrosis Mutation Analysis |
| Synonyms: | CF-Delta F508; Cystic Fibrosis - Delta F508; CF70; CMFA | ||
| Methodology: | PCR amplification and analysis of DNA | ||
| CPT Codes: | 81220 x1 | ||
| Test Includes: | CFMA mutation extraction; CFMA mutation amplificaton2; CFMA mutation amplification 2; CFMA mutation analysis; CFMA mutation separation | ||
| Turnaround Time: | Specimens are sent to the 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:
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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 Alternate Containers: 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.
Time Sensitive Handling Required: Specimen must be at the East Bank Sendouts lab no later than 1600. Order On-Time Delivery courier to deliver directly to East Bank Sendouts lab. Call Sendouts at 612-273-3711 to notify. CSC and West Only: Send in red STAT bag by HealthEx courier. Call Sendouts at 612-273-3711 to notify. |
| Stability: | |
| 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:
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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Click HERE to Report test errors or omissions.
*If no email program is associated with this computer, please contact:
systemlabguide@fairview.org for TestID: 1495"