ARUP's Laboratory Test Directory
| 0050393: Cystic Fibrosis, Mutation Panel, Fetal |
![[ image for: Time Sensitive]](icon_1.jpg){kind=icon} | Time Sensitive | ![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CF MUT FE | |
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Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation
Performed: Sun-Sat Reported: 6-7 days |
| Specimen Required: | |
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Collect: Collect and Transport: Cultured cells: Two T-25 flasks at 80% confluent of cultured amniocytes. Fill flasks with culture media to ship at 20-25°C. Backup cultures must be retained at the client's institution until testing is complete. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787. Maternal sample: One 3 mL whole blood lavender (EDTA) or yellow (ACD Solution A or B) at 20-25°C. Remarks: Fetal samples are CRITICAL AMBIENT and must be received within 48 hours of shipment due to lability of cells. Maternal sample is recommended for proper test interpretation. Order Maternal Cell (MCC MAT) (0050608). Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services. Stability: Fetal: Ambient: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable Maternal: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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Test Information: Incidence: 1:3,000 Caucasian and Ashkenazi Jewish births; lower in other ethnicities. Inheritance: Autosomal recessive. Characteristics: meconium ileus, pancreatic insufficiency, chronic sino-pulmonary disease, gastrointestinal/ nutritional abnormalities, salt-loss syndromes and male infertility. Causation: cystic fibrosis transmembrane regulator (CFTR) gene mutations. Mutations Tested: G85E, R117H, I148T, R334W, R347P, R347H, 394delTT, A455E, I507del, F508del, V520F, G542X, S549N, S549R, G551D, R553X, R560T, 621+1G>T, 711+1G>T, 1078delT, R1162X, W1282X, N1303K, 1717-1G>A,1898+1G>A, 2184delA, 2789+5G>A, 3120+1G>A, 3659delC, 3849+10kbC>T, 3876delA, 3905insT. For samples positive for R117H or I148T, the IVS-8/poly T variant or 3199del6 mutation are analyzed respectively. Methods: PCR, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis. Limitations: Only the 32 mutations tested will be detected; furthermore, mutations within the primer/probe regions could affect this assay. Sensitivity: African American-65%; Ashkenazi Jewish-94%; Caucasian-89%; Hispanic-73%. Hot Line Note: Please remove consent form statement. For quality assurance purposes, ARUP Laboratories will provide a confirmation of the above result at no charge. Following delivery, please collect a cord blood sample from the infant in a lavender (EDTA) or yellow (ACD Solution A) top tube and transport 1 mL cord blood at 2-8°C. Order the Cystic Fibrosis, Mutation Panel (0056040), and please specify on the test request form that this is a confirmatory study to be performed at no charge. Please provide the mother's name for specimen identification purposes. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
| CF Mutation: 83890 Isolation; 83900 Multiplex amplification; 83901 x30 Additional amplification; 83914 x32 Mutation identification by OLA; 83909 Capillary electrophoresis; 83912 Interpretation and report. FCC: 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis. If MCC MAT (0050608) is performed, add: 83890 Isolation; 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |