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HelpTest Code LAB2985 DMD Single Gene Analysis
Clinical System Name
DMD Single Gene Analysis
Synonyms
DMD Sequencing
Duchenne/Becker Dystrophy Sequencing
Dystrophin Sequencing
Sample Requirements
Preferred Specimen: Whole Blood
Container(s): Lavender/EDTA
Preferred Vol: 3.0 mL
Minimum Vol: 1.0 mL
Alternative Specimen: DNA
Container(s): Sterile Plastic Tube
Preferred Vol: > 20 ng/μl (optimal concentration 20 – 150 ng/μl) and with a minimum volume of at least 60 μl.
Minimum Vol: 2 μg in at least 60 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 - 4 C
Storage Location: Deliver whole blood to Send Outs refrigerator rack.
Off-site Collection: Send whole blood refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Room temp | |
| Whole blood | Refrigerated | |
| Whole blood | Frozen | Unacceptable |
| Extracted DNA | Room temp | |
| Extracted DNA | Refrigerated | |
| Extracted DNA | Frozen | Indefinitely |
| Buccal Swabs or Saliva | Room Temp | Ref Lab Dependent |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | 3 - 4 w |
Performing Laboratory
PreventionGenetics - Diagnostic Lab
3800 S. Business Park Ave.
Marshfield, WI 54449 USA
Phone Number: (715) 387-0484
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Method: Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Analytical Volume:
Limitations:
Reference Range
Interpretive report is provided.
Send Out Instructions
| Reference Test Name: |
Dystrophinopathy via the DMD Gene |
| Reference Test Number: | |
| Instructions: | Send whole blood Monday through Friday to Prevention Genetics via FedEx. |