PALB2 Sequencing and Deletion/Duplication
GTR Test Accession: Help GTR000552111.7
Last updated in GTR: 2023-06-16
Last annual review date for the lab: 2023-07-07 LinkOut
At a Glance
Diagnosis; Predictive; Risk Assessment; ...
Hereditary cancer-predisposing syndrome
Genes (1): Help
PALB2 (16p12.2)
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
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Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Chorionic villi
  • Cord blood
  • Fibroblasts
  • Fresh tissue
  • Peripheral (whole) blood
  • View specimen requirements
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Predictive; Risk Assessment; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The laboratory follows ACMG variant classification protocols

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. Quest Diagnostic’s Family Insight Program allows for segregation analysis, or determining whether the VUS is tracking with the disease in the family. By gathering clinical and family history information on your patient, we are able to identify appropriate family members to offer testing for the VUS identified in your patient. … View more

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Inquiry by the ordering provider regarding potential changes to the classification of the variant is strongly recommended prior to making any clinical decision. If a variant is reclassified and this has clinical implications, Quest Diagnostics will endeavor to contact the ordering provider. For questions regarding variant classification updates, please call … View more
Recommended fields not provided:
Technical Information
Test Procedure: Help
Gene dosage is assessed by bioinformatic analysis of sequencing reads and confirmed as necessary by a custom targeted microarray
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>99.9% specificity; >99.9% sensitivity
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Laboratory's policy on reporting novel variations Help
Novel variations are reported
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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