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Test Code LAB3538 Arterial Aneurysm Panel

Clinical System Name

Arterial Aneurysm Panel

Synonyms

Core Familial Aneurysm Panel

VscAnP

Vascular Aneurysm Genomic Panel

Arterial Aneurysm Panel

Aortic Aneurysm Panel

Description

This panel includes sequencing of 25 genes associated with familial arterial aneurysms, including genes for Marfan Syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos Syndrome, and TAAD: ACTA2, COL3A1, FBN1, FBN2, MAT2A, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, FOXE3, BGN, LOX, MFAP5, NOTCH1, PLOD3, SMAD2, SMAD4, SMAD6, COL1A1, and CBS.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 5.0 mL (adults)

Minimum Vol: 3.0 mL, 2 mL (infants)

 

Specimen: DNA

Container(s): Sterile Plastic Tube

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

 

Alternate Specimens (saliva/buccal): See the Alternate Specimen Collection Kits for Genetic Testing page

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: RT

Storage location: Do not spin. Whole blood may be stored at 4°C until shipped and is stable for 3 - 5 days in the refrigerator.

 

Off-site collection: Do not spin. Keep whole blood at room temperature.

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 Performed TAT
N Drawn daily 5 - 7 w

 

Performing Laboratory

University of Washington Medical Center

Department of Laboratory Medicine

Collagen Diagnostic Laboratory

Lab H-561 Health Sciences

1959 NE Pacific St, NW220
Seattle, WA 98195
 

Phone Number: (206) 520-4600

Genetic Counselors: (206) 543-5464

Department

Department: Send Outs/Genetic

Phone Number: (206) 987-2563

Methodology

Method: Next Generation Sequencing:  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

Test Guidelines for Familial Aneurysm Syndrome

Send Out Instructions

Reference Test Name: Arterial Aneurysm Panel
Reference Test Number:

None specified
Instructions:

Use a UW Collagen Diagnostic Laboratory Requisition (see above).

 

Send to:

Peter Byers, MD

Collagen Diagnostic Laboratory

Lab H-561 Health Sciences Bldg.
1959 NE Pacific St.
Seattle, WA 98195-7655

 

Or send refrigerated sample with the UW courier Monday - Friday.