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Test Code DMD Seq Duchenne/Becker Dystrophy Sequencing

Clinical System Name

Duchenne/Becker Dystrophy Sequencing

Synonyms

DMD Sequencing

Dystrophin Sequencing

Sample Requirements

Specimen: Whole Blood, Yello/ACD (Solution A or B)

Container(s): EDTA

Preferred Vol: 5 mL

Minimum Vol: 3 mL

 

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

Storage location: Deliver blood to Sendouts refrigerator rack Store labels in the clear plastic box on front of the CPA fridge.

Off-site collection: Send whole blood refrigerated

Stability

Specimen Type Temperature Time
Whole blood Room temp 48 h
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   < 28 days

 

Performing Laboratory

Prevention Genetics

 

Department

Department:  Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

 

 

 

Reference Range

Interpretive report is provided

Methodology

Method: A combination of Next Generation Sequencing (NGS) and Sanger sequencing technologies to cover the full coding regions of the listed genes plus ~20 bases of non-coding DNA flanking each exon. 

Analytical Volume:

Limitations:

Send Out Instructions

Reference Test Name: Dystrophinopathy via the DMD Gene
Reference Test Number: 1773
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery