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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
MYGENVAR CYSTIC FIBROSIS-CFTR GENE, WHOLE GENE, NEXT GENERATION SEQUENCING |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB6019 Geisinger Epic ID: 183533 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Alternate Collection Container: |
6 mL pink-top K2 EDTA tube
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Specimen required: |
3 mL lavendar EDTA whole blood; minimum 0.5 mL. | |
Special notes: |
NO SHARED SPECIMENS WITH OTHER LABORATORY DEPARTMENTS. May be combined with other Molecular Diagnostic tests. For genetic testing, original tube required. Isolated/extracted nucleic acids are acceptable only from CLIA-certified laboratories or a laboratory meeting equivalent requirements as determined by CAP and/or CMS. | |
| SPECIMEN PROCESSING |
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Specimen processing instructions: |
Mix well. Do not centrifuge. | |
Transport temperature: |
Refrigerated: 2-8°C | |
Specimen stability: |
Refrigerated (2-8°C): 4 weeks | |
Rejection criteria: |
Specimen collected in heparin (green-top) tube will be rejected. Frozen whole blood specimens will be rejected. Stability limits exceeded. Shared or comingled specimens. | |
TEST DETAILS |
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Reference interval: |
Negative. No variant is detected in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene-full gene panel test. | |
CPT code(s): |
81223 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Test includes: |
This test detects single nucleotide variants, and small indels within the region sequenced and additionally reports on two deep intronic mutations and two large deletions in the Cystic Fibrosis Transmembrane Conductance (CFTR) gene. | |
Methodology: |
Next Generation Sequencing Polymerase Chain Reaction (PCR) |
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Synonyms: |
CF PCR, cystic fibrosis, cystic fibrosis PCR, cystic fibrosis mutation, CF mutation, CF genotype, cystic fibrosis genotype, CF DNA, cystic fibrosis DNA, CFTR, cystic fibrosis transmembrane conductance.
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Clinical significance: |
This test is used as an aid in the diagnosis of individuals with suspected cystic fibrosis (CF). It is intended to be used when the patient has an atypical or non-classic presentation of CF or when other mutation panels have failed to identify causative mutations. | |
Doctoral Director(s:) |
Yi Ding MD, PhD | |
| Review Date: | 03/22/2023 | |