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Test Code RAI1 UM RAI1 Sequencing

Clinical System Name

RAI1 Sequencing

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top or EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants

Note: Send blood promptly to Lab for processing

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:  15 µg of purified DNA at a concentration of at least 20 µg/ml 

Minimum Vol:

 

 

 

Processing Instructions

Reject due to:

Spin: N

Aliquot:N

Temp: RT

Storage location:  Process sample immediately. DO NOT SPIN.

If collected Monday - Thursday AM, affix large Cerner labels to tubes and place in room temperature send-outs rack. If sample is NOT collected Monday-Thursday AM, affix large cerner labels to tubes and place in refridgerator send-outs rack.  Alert Send-outs team. 

 

Off-site collection: Send immediately at room temperature. Do not spin.

Stability

Specimen Type Temperature Time
Whole blood Room temp

2 d

  Refrigerated 7 d
  Frozen

N

 

Availability

STAT Performed TAT
N   2-3 wks (max 30d)

 

Performing Laboratory

PreventionGenetics

Department

Department:     PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number:    (715) 387-0484

Reference Range

Interpretive report provided.

 

 

Methodology

Method: bidirectional Sanger sequencing of the coding exons and ~20bp of adjacent noncoding sequences. This testing strategy will reveal coding sequence changes, splice site mutations and small insertions or deletions in the RAI1 gene, but will not detect large deletions, insertions or rearrangements in the RAI1 locus.

Analytical Volume: None specified

 

CPT Codes

81405x1 (updated 1/30/2016 by sstasi) 

 

 

 

Clinical Utility

Smith-Magenis GeneReviews

Send Out Instructions

 

Reference Test Name: RAI1 Sanger Sequencing
Reference Test Number: 1519
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery