Cystic Fibrosis (CF) Full-gene Carrier Screen

Casandra

Casandra Test Code LC55506Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 482632CPT Code 81220

Cystic Fibrosis (CF) Full-gene Carrier Screen

Also known as: CF carrier testing, CF full gene sequencing, CF testing

Clinical Use

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Use

This test is used for carrier screening for cystic fibrosis by full gene sequencing and deletion/duplication analysis. Variants of uncertain significance are not included.

Special Instructions

To test fetal specimens, including cord blood, order GeneSeq PLUS, Fetal Analysis [482389].

Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

Test Details

Methodology

NGS (Targeted)

Biomarkers

This component provides full CFTR gene sequencing to identify carriers of Cystic Fibrosis, including detection of SNVs, CNVs, insertions, and deletions.

CFTR

Gene

SNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

90256-9

Result Codes

42784-9
31208-2
89993-0
42349-1
90256-9
53039-4
8262-8
62385-0
55752-0
8251-1
49549-9
75608-0
72486-4
51969-4

Result Turnaround Time

14-21 days

Specimen

Whole Blood

Volume

4 mL

Minimum Volume

3 mL

Container

Yellow-top (ACD-A) or lavender-top (EDTA) or pink-top (EDTA) or tan-top (EDTA) tubes

Collection Instructions

Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Patient Preparation

Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

Stability Requirements

Temperature	Period
Room Temperature	14 days
Refrigerated	30 days at 4°C

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Temperature

Period

Room Temperature

14 days

Refrigerated

30 days at 4°C