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Advanced Genomics Laboratory (AGEN)

The Advanced Genomics (AGEN) Laboratory at Children’s Research Institute provides diagnostic services using state-of-the-art molecular techniques and the latest scientific discoveries to provide innovative methods in the diagnosis of genetic disorders for clinical care.

The Advanced Genomics (AGEN) Laboratory facilitates the rapid translation of scientific observations into clinical diagnostics through joint a effort between Children's Wisconsin-Laboratory Medicine, Children's Research Institute, Medical College of Wisconsin Department of Pediatrics (Division of Genetics), and the Medical College of Wisconsin Department of Pathology (Division of Pediatric Pathology).

Through a partnership with the Children's Wisconsin-Department of Pathology and Laboratory Medicine, the Advanced Genomics (AGEN) Laboratory is accredited by the College of American Pathologists.

Advanced Genomics Laboratory Requisition Form  (PDF)

Test Description Overview

Test Description Overview (PDF)

DNA Deletion Duplication Array

  • Description: A high-resolution, genome-wide analysis to identify duplications and deletions of chromosomal segments
  • Test Code: DDDA
  • CPT Code: 81229

Quantitative Polymerase Chain Reaction

  • Description: Determines the copy number of a chromosomal segment to evaluate for the presence of deletion or duplication aberrations
  • Test Code: qPCR
  • CPT Code: 94311x1, 88271x2, 88291x1

Test Requisition Form

Test Requisition Form (PDF)

Specimen Collection and Transport Guide

Specimen Collection and Transport Guide (PDF)

Origin of Request: Children's Wisconsin inpatient

  • Order Method: Use Epic system
  • Payment Method: AGEN invoices Children's Wisconsin

Origin of Request: Children's Wisconsin outpatient

  • Order Method: Provide a prescription for outpatient testing, write "DDDA" in the additional tests section of the Outpatient Laboratory Order Form (PDF) and Fax Children's Wisconsin outpatient laboratory the order sheet to (414) 955-6128
  • Payment Method of Services: AGEN invoices Children's Wisconsin

Origin of Request: Outside Referring Diagnostic Laboratory

The AGEN laboratory does not bill third parties (e.g. insurance companies). The referring laboratory is responsible for obtaining payment from third parties. Our laboratory bills directly to referring laboratory for payment. Please provide complete institutional billing information within the Institution Contact section on the Test Requisition Form (PDF).

Frequently Asked Questions

How do I submit a sample?
See the Specimen Collection and Transport Guide (PDF) and the Test Requisition Form (PDF).

To ensure the quality of test results, specimens are to arrive in the Advanced Genomics Laboratory (AGEN) within 3 days of collection. We recommend the use of Federal Express – First Priority Overnight.

Please contact the laboratory with courier name and tracking number prior to a weekend or holiday to assure optimal specimen handling.
How are results reported?
The final laboratory report is furnished to the referring laboratory by interoffice delivery for ChartMaxx/Sunrise entry (Children’s Wisconsin client) or fax transmission (Non-Children’s Wisconsin client). Providing an accurate fax number within the Institution Contact section on the Test Requisition Form is necessary for successful communication of final results.
How do I obtain a consultation of results and what do these results mean?
Please contact the AGEN laboratory at (414) 955-2358 and ask for the laboratory director.
What CPT codes are applied to the DNA deletion-duplication Array (DDDA)?
What CPT codes are applied to the Quantitative PCR (qPCR)?
  • 84311x1
  • 88271x2
  • 88291x1
How long does it take to get final results and what is the turnaround time?
For the DDDA test, typical turnaround time is six (6) weeks. For the qPCR test, typical turnaround time is three (3) weeks.
What is the cancellation policy
If you wish to cancel a test, contact the AGEN Laboratory at (414) 955-2358. Once array testing has been initiated, the test cannot be cancelled. The test will be resulted and billed. If you contact the laboratory before the array has been initiated, only a DNA extraction charge will be billed, as samples are extracted immediately upon receipt.
Who pays for these tests
Can I order qPCR test without ordering a microarray
In some instances this is possible. Please contact the AGEN Laboratory Director at (414) 955-2358.

Licensure & Accreditation

Through a partnership with Children's Wisconsin, the Advanced Genomics (AGEN) Laboratory is certified for clinical testing by CAP (College of American Pathologists).

Clinical Laboratory Improvement Amendments (CLIA) Certificate of Compliance (PDF)


Key Contacts

Laboratory Director

Associate Director

Scientific Director

Ulrich Broeckel, MD

Laboratory Manager
Rachel Lorier, BS

Contact Information and Specimen Delivery Address

Medical College of Wisconsin
Advanced Genomics Laboratory (AGEN)
Attn: Rachel Lorier
Department of Pediatrics – Genetics
TBRC/CRI, Rm. C2388
8701 Watertown Plank Rd.
Milwaukee, WI 53226

Hours of Operation
The laboratory is regularly staffed Monday through Friday, 8:30 am to 5:00 pm (Central Standard Time).

Specimen Delivery
Shipments are to be delivered to the Medical College of Wisconsin Loading Dock. The loading dock is located off of Watertown Plank Rd. between 87th and 92nd Streets by use of access road highlighted by red arrow (see map).

414) 955-2358
(414) 955-6128 (fax)