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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Associated Links: |
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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