Droplet digital PCR
GTR Test Accession: Help GTR000568059.3
Last updated in GTR: 2022-05-25
Last annual review date for the lab: 2023-05-19 Past due LinkOut
At a Glance
Diagnosis; Prognostic; Recurrence
Multiple congenital anomalies
Molecular Genetics - Deletion/duplication analysis: Quantitative PCR (qPCR)
Droplet digital PCR (ddPCR) is most often used to test …
Not provided
Not provided
Ordering Information
Offered by: Help
Clinical Genomics Laboratory
View lab's website
View lab's test page
Test short name: Help
ddPCR
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Whitney Neufeld-Kaiser, MS, Certified Genetic counselor, CGC, Genetic Counselor
whitneyn@uw.edu
206-598-8684
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
Test kits with return shipping are available as needed. Email whitneyn@uw.edu or call 206-598-8684 to request kits. Please see the lab's website for complete information about sample types, ordering and shipping requirements, and test requisition.
Order URL
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Quantitative PCR (qPCR)
Bio-Rad QX200 droplet generator and reader
Clinical Information
Test purpose: Help
Diagnosis; Prognostic; Recurrence
Target population: Help
Droplet digital PCR (ddPCR) is most often used to test family members for deletions or duplications initially detected by chromosomal microarray analysis (CMA). It is a less expensive option than CMA. ddPCR allows for detection of deletions and duplications that are too small to be seen using FISH or CMA. … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not applicable to ddPCR

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The ordering provider is welcome to contact lab to request an updated interpretation of any CNVs detected previously.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Genomic DNA extracted from the patient sample is amplified by fluorescence based PCR. Before the amplification, the PCR sample is partitioned into 20,000 droplets using Bio-Rad QX200 droplet generator. After amplification, droplets containing target sequence are detected by fluorescence and scored as positive, and droplets without fluorescence are scored as … View more
Test Platform:
None/not applicable
Test Comments: Help
Limitations of the test: Droplet digital PCR (ddPCR) is performed for the sole purpose of identifying targeted genomic copy number gains (duplications or amplifications) and copy number losses (deletions) of the regions being interrogated. ddPCR will not detect low-level mosaicism (<20%). ddPCR will not detect imbalances in the genome outside … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Validated with 8 trios (proband plus both parents) previously found to have CNV by microarray: 3 deletions, 5 duplications. ddPCR showed 100% concordance with CMA results.
Assay limitations: Help
Droplet digital PCR (ddPCR) is performed for the sole purpose of identifying targeted genomic copy number gains (duplications or amplifications) and copy number losses (deletions) of the regions being interrogated. ddPCR will not detect low-level mosaicism (<20%). ddPCR will not detect imbalances in the genome outside of the interrogated regions … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Not applicable to ddPCR

Laboratory's policy on reporting novel variations Help
Not applicable to ddPCR
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.