Cystic Fibrosis Gene Deletion or Duplication

Cystic Fibrosis Gene Deletion or Duplication

Test Code

16080
81222
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
16080
81222
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.

Clinical Significance

Cystic Fibrosis Gene Deletion or Duplication - This test detects large deletion or duplication copy number variants in the CFTR gene in CF patients or patients with the potential diagnosis of CF where only one or no pathogenic variants have been identified. Large deletions and duplications comprise only a very small percentage of variants in the CFTR gene. As a result, this test is not recommended as a first-line test unless a specific known familial deletion or duplication has been identified. It is best used either as a follow up or in conjunction with full gene sequencing. It is not recommended for routine carrier screening.

The ...

Test Resources

Algorithm

Cystic Fibrosis Carrier Screening

Algorithm

Cystic Fibrosis Diagnosis

Test Guide

Cystic Fibrosis Test Selection Guide

Test Details

Includes

  • If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

Methodology

Next Generation Sequencing

Assay Category

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Alternative Name(s)

CF Dosage,CF Deletion/Duplication,Cystic Fibrosis Dosage,Cystic Fibrosis Deletion/Duplication

LOINC® Codes, Performing Laboratory

Service Area must be determined
If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

Methodology

Next Generation Sequencing
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Alternative Name(s)

CF Dosage,CF Deletion/Duplication,Cystic Fibrosis Dosage,Cystic Fibrosis Deletion/Duplication
Service Area must be determined

Preferred Specimen(s)

5 mL whole blood collected in an EDTA (lavender-top) tube, EDTA (royal blue-top) tube, ACD (yellow-top) tube or Sodium heparin (green-top) tube

Alternative Specimen(s)

Fetal specimens: 10 mL amniotic fluid collected in a sterile, leak-proof container • Amniocyte or chorionic villus (CVS) culture cells collected in each of two sterile T25 flasks • 10 mg dissected chorionic villus (CVS) biopsy collected in a sterile tube filled with sterile culture media

Minimum Volume

3 mL whole blood • 10 mL amniotic fluid • Cultured cells 75% confluent • 10 mg chorionic villi

Collection Instructions

Do not hold specimen; forward to laboratory when specimen arrives. Contact performing laboratory for stability determination. For any other sample type call 866-GENE-INFO (1-866-436-3463).

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission.
2) Documentation of parental carrier status must be provided.
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Note: Do not reject. Forward to performing laboratory for evaluation of sample.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or chorionic villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture media. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

  • Whole blood
    Room temperature: 14 days
    Refrigerated: 14 days
    Frozen: Unacceptable

    Fetal specimens
    Room temperature: 48 hours
    Refrigerated: Unacceptable
    Frozen: Unacceptable

Setup Schedule

Service Area must be determined
5 mL whole blood collected in an EDTA (lavender-top) tube, EDTA (royal blue-top) tube, ACD (yellow-top) tube or Sodium heparin (green-top) tube
Fetal specimens: 10 mL amniotic fluid collected in a sterile, leak-proof container • Amniocyte or chorionic villus (CVS) culture cells collected in each of two sterile T25 flasks • 10 mg dissected chorionic villus (CVS) biopsy collected in a sterile tube filled with sterile culture media
3 mL whole blood • 10 mL amniotic fluid • Cultured cells 75% confluent • 10 mg chorionic villi

Do not hold specimen; forward to laboratory when specimen arrives. Contact performing laboratory for stability determination. For any other sample type call 866-GENE-INFO (1-866-436-3463).

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission.
2) Documentation of parental carrier status must be provided.
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Note: Do not reject. Forward to performing laboratory for evaluation of sample.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or chorionic villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture media. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

EDTA (lavender-top) tube
Room temperature

Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Fetal specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.
Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

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