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Test Code LAB3046 FBN1 Single Gene Analysis

Additional Codes

FBN1 Gene

Clinical System Name

FBN1 Single Gene Analysis

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 dysplasia, acromicric dysplasia, Weill Marchesani syndrome, and stiff skin syndrome.

Sample Requirements

Preferred Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL, 2.0 mL (infants)

 

Alternative Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 5 µg DNA at a minimum concentration of ≥200 ng/µl

 

Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage Location: Place whole blood in CPA refrigerator, Send Outs rack.

 

Off-site Collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole Blood Room Temp 3 d
  Refrigerated 7 d
  Frozen Unacceptable
Extracted DNA Room Temp 3 - 4 d
  Refrigerated 1 y
  Frozen Indefinitely

Availability

STAT TAT
N 4 - 6 w

 

Performing Laboratory

Collagen Diagnostic Laboratory (CDL)/Center For Precision Diagnostics (CPDx)

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

Main Phone Number: (206) 543-0459

Genetic Counselor: (206) 543-5464

Fax: (206) 616-1899

Department

Department: Send Outs/Genetic

Phone Number: (206) 987-2563

 

Reference Range

Interpretive report is provided.

Methodology

Next generation DNA sequencing is performed to identify nucleotide variants in the coding portion of the genome. All nucleotides in the coding exons and their flanking splice junctions are sequenced to a read coverage of greater than 20X.  The sequence data are assembled and compared to the published genomic reference sequence.  Sanger sequencing is performed if necessary to ensure complete nucleotide coverage of the target sequence and to confirm all reported variants.

Special Instructions

Collagen Diagnostic Laboratory/Center for Precision Diagnostics Lab

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: FBN1 gDNA Testing
Reference Lab Test Code: Not provided
Instructions:

Send Monday through Friday with the UW courier. Attach a UWMC Pass Through label to the bag. In the "From" field, write SEACOH. In the "To" fiedl, write UW CDL.