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Test Code FBN1DD UM FBN1 Deletion/Duplication Test

Clinical System Name

FBN1 Deletion/Duplication Test

Synonyms

Marfan syndrome

Fibrillin

Description

Mutations in FBN1 can result in several phenotypes, the most frequent of which is Marfan syndrome that is characterized by relative tall stature, arachnodactyly, kyphoscoliosis, chest deformity, lens dislocation and a high risk for aortic aneurysm and dissection. In addition to Marfan syndrome mutations in FBN1 can cause dominantly inherited forms of geleophysic dysplasiaacromicric dysplasiaWeill Marchesani syndrome, and stiff skin syndrome.

Sample Requirements

Whole blood is preferred

 

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 5-10 mL

Minimum Vol: 3 mL

 

Notes

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15 µg DNA at a minimum concentration of ≥200 ng/µl

Minimum Vol:

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Place whole blood in CPA refrigerator send-outs rack. Store extra labels in the clear plastic box attached to CPA refrigerator.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 2-4 w

 

Performing Laboratory

Collagen Diagnostic Laboratory/Center For Precision Diagnostics

Department

Department:  1959 NE Pacific St., HSC H-458
Seattle, WA 98195
FAX: 206.221.7509

 

Main Phone Number: 206-543-0459

Genetic Counselor: 206-543-5464

Fax: 206-616-1899

Reference Range

Interpretive report is provided.

Methodology

Method: DNA extracted from the patient and a control DNA sample are labeled separately with contrasting fluorescent dyes. The DNA samples are normalized, mixed and hybridized to the custom high density oligonucleotide microarray targeting the gene(s) of interest. After hybridization, the microarray is scanned and an intensity ratio profile of the fluorescent dye signals is generated. The data are analyzed to identify copy number changes in the patient compared to the normal control.

Analytical Volume:

Limitations:

Clinical Utility

 

Marfan syndrome is a clinical diagnosis based on family history and the observation of characteristic findings in multiple organ systems. Molecular testing is useful in cases of unclear clinical diagnosis or to distinguish between syndromes with overlapping features.

 

GeneReviews: Marfan Syndrome

Familial aneurysm syndrome test guide

Send Out Instructions

Reference Test Name:  Deletion/Duplication Analysis
Reference Test Number: Not specified
Instructions:

Send to: Peter Byers MD, Department of Pathology, Room D-518, University of Washington Medical Center, 1959 NE Pacific Street, Seattle, WA 98195-7110. Phone: (206) 543-0459. Or send with the UW/HMC courier, Mon - Fri at 0900 and 1600.

 

UW Collagen Diagnostic Lab does not accept Holiday or weekend delivery