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ATP7B gene sequencing

Omics test Model
Test Code SW001
Test Summary

ATP7B gene sequencing performed using the Genetic Diagnostic Sequencing Test. Test Push
Turn Around Time 10 days
Acceptable Sample Types Blood (WB and DBS) , Saliva
NY Approved No
Self (patient) Price Starting at $900. For additional terms and conditions, please contact the laboratory for more information.
Institutional Price Starting at $900. For additional terms and conditions, please contact the laboratory for more information.
Accreditations SWEDAC

*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.

This test is not available in your region United States, please select your nearest laboratory to request more information.
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Test Code: SW001
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Test Description

ATP7B gene sequencing is performed using the Genetic Diagnostic Sequencing Test. The Genetic Diagnostic Sequencing Test is intended to detect genetic variants in genes known to be associated with various genetic diseases patient samples. Genetic variant information is used to confirm a clinical or biochemical diagnosis. A specific diagnosis informs medical management and prognosis as well as allowing for appropriate counseling of family members.

[Swedac test name: ATP7B genotyping]

Test Methods and Limitations

Sequence analysis of the gene(s) of interest was performed by next-generation sequencing on the Element AVITI system. Alignment to the human reference genome (GRCh37) is performed and annotated variants are identified in the targeted region.

Variants reviewed have an alternate allele frequency of 20% or higher. A base is considered to have sufficient coverage at 20X and an exon is considered fully covered if all coding bases plus three nucleotides of flanking sequence on either side are covered at 20X or more. This analysis cannot detect variants in regions not analyzed such as promoters or deep intronic regions.

Copy number variation (CNV) analysis detects deletions and duplications; in some instances, due to the size of the exons, sequence complexity, or other factors, not all CNVs may be detected. When reported, copy number variant size is approximate. Actual breakpoint locations may lie outside of the targeted regions.

This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director. Data analysis is performed using the Revvity Omics AWS NGS (ROAN) Software System version 2.1. Test Push

Detailed Sample Requirements

Saliva
Test Details Page
Collection Container(s) Oragene™ Saliva Collection Kit or ORAcollect-Dx kit
Collection Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer's instructions.
Sample Condition Store at ambient temperature. Do not refrigerate or freeze.
Shipping Ship overnight at ambient temperature.
Special Sample Instructions Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample. Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information.
Blood (WB and DBS) (Preferred Sample)
Test Details Page
Collection Container(s) Whole Blood (EDTA): EDTA (purple top). Dried Blood Spots (DBS): Dried blood spot card.
Collection Whole Blood (EDTA): Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation. Dried Blood Spots (DBS): Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours. Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit. For pre-punched DBS: The required minimum is 6 punches
Sample Condition Whole Blood (EDTA): Store at ambient temperature. Do not refrigerate or freeze. Dried Blood Spots (DBS): Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C ) or preferably in a freezer.
Shipping Whole Blood (EDTA): Ship overnight at ambient temperature ensuring receipt within 5-days of collection. Dried Blood Spots (DBS): Follow kit instructions. Double bag and ship overnight at ambient temperature.
Special Sample Instructions Whole Blood (EDTA): Clotted or hemolyzed samples are not accepted.