Collagen Diagnostic Laboratory

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General Information

Lab Name
Lab Code
375
Epic Name
Collagen Lab Testing
Description

The Collagen Diagnostic Laboratory (CDL) offers genetic testing for familial aneurysm syndromes, osteogenesis imperfecta (OI), Marfan syndrome, several forms of Ehlers-Danlos Syndrome (EDS) and other connective tissue disorders. The CDL is housed within the UW Department of Laboratory Medicine and Pathology.

EPIC Ordering:

  • Test Name: Collagen Lab Testing
  • Order Code: CDLPATH
  • For orders submitted electronically via EPIC, a separate test requisition form is requested
  • Please specify test to be performed (Arterial Aneurysm Panel, OI, EDS, Marfan Syndrome, etc.) in the comments section

Questions? Please contact the CDL directly:

  • Email: cgateam@uw.edu
  • Phone: 206-598-1149
  • Fax: 206-616-4584
  • Additional Information: http://www.uwcdl.org

Disorders tested may include: Familial Aneurysm, Osteogenesis Imperfecta, Caffey Disease, Ehlers-Danlos Syndrome (EDS), Loeys-Dietz Syndrome, Arterial Tortuosity Syndrome. Refer to the CDL website for full details.

Forms & Requisitions
Synonyms
Byers Lab, CDL, CDLPATH, Center for Precision Diagnostics, COL1A1/2, COL3A1, Collagen Diagnostic Lab, Collagen Screening, CPDx, CRTAP & LEPRE1 Sequencing, Familial Thoracic Aortic Aneurysm, FISH, Genomic DNA sequencing, Laboratory for Precision Diagnostics, LPDx, Marfan's Syndrome, TGF-beta receptor, TGFBR1, TGFBR2, Transforming Growth Factor Beta Receptor
Components

Interpretation

Reference Range

Ordering & Collection

Specimen Type
Blood, saliva, cultured/direct amniocytes or chorionic villus cells, extracted gDNA
Collection

Acceptable:

  1. Whole Blood: 5 mL lavender top (EDTA) tube or yellow (ACD) top tube or 2 mL microtainer lavender top tube.
  2. Extracted genomic DNA from blood, chorionic villi, and amniocytes: 750 ng (concentration >10 ng/uL).
    • DNA must be extracted by a CLIA certified lab.
  3. Cultured amniocytes/chorionic villi:
    • 2 confluent T-25 flasks. Please notify the lab at 206-598-1149.
  4. Saliva collected using an Oragene Dx OGD-500, OGD-100, or Oragene Dx OGD-575 collection device. Please contact the laboratory at cgateam@uw.edu to request a kit​.
  5. Skin Biopsy:
    • Requires cell culture through Cytogenetics. Complete an additional Cytogenetics Requisition.
    • Select “Grow cell cultures for send out” [LABGROWCELLS].

Unacceptable: Heparin green top tubes

Note: Samples may be labeled with Beaker labels. Sunquest labels cannot be generated for this code.

Forms & Requisitions
Handling Instructions

Ship via express courier (FedEx, UPS, or DHL) overnight in ambient temperature to:

Collagen Diagnostic Laboratory
UW Medical Center
Attention: Genetics and Solid Tumors
1959 NE Pacific Street, Room NW 220
Seattle, WA 98195-7655
Phone: 206-598-1149

Requisition MUST be sent with the sample.

Do NOT ship over the weekend or holidays.

International Samples: An import permit is not required by the USDA in order to ship a sample to the CDL from outside the continental United States. However, to ensure that the sample arrives quickly, you may want to contact your international courier for clarification. Often, indicating that the enclosed cells or DNA are for clinical diagnostic testing and that have no commercial value will expedite shipment.

Quantity
Requested: Entire sample
Minimum: Blood: 1 mL. If volume is less than 1mL, do not cancel. Send to Genetics lab for assessment. Confluent cultured cells: One (1) T25 flask. Extracted DNA: 750 ng

Processing

Receiving Instructions

Maintain the temperature the sample(s) arrived in.

HMC, UW-NW, FHCC: Forward samples to UW-MT for transport to CDL.

UW-MT SPS:

  • Do not log into Sunquest.
  • Create an entry in the "Pass-through" binder.
  • Place sample(s) in the Genetic(s) bin.
  • Result the pending LABUND (if ordered).

Stability: Whole blood is stable for up to 14 days refrigerated.

Misc Sendout

Performance

Lab Department
Frequency
Results within 4-6 weeks of sample receipt.
Available STAT?
No
Performing Location(s)
Other University of Washington Laboratory for Precision Diagnostics (LPDx)
206-598-1149

1959 NE Pacific St.
HSB H-561
Seattle, WA 98195

Email: cgateam@uw.edu
General Phone: 206-598-1149
Genetic Counselor: 206-543-5464

Faculty:
Ulrike Schwarze, MD

Billing & Coding

Billing Comments

Do NOT bill Recipient (the Collagen Diagnostic Laboratory).

See Billing instructions.