Duchenne Muscular Dystrophy (DMD), Gene Deletion/Duplication and Sequencing (Sendout)

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General Information

Lab Name
Lab Code
191
External Test Id
1773
Description

Test Description: This test provides full coverage of all coding exons of the DMD gene, plus ~10 bases of flanking noncoding DNA. Full coverage is defined as >20X NGS reads or Sanger sequencing.

Indications for Test:

  • Males with a clinical diagnosis of DMD/BMD.
  • Males with symptoms of DMD/BMD (a waddling gait and difficulty climbing stairs, Gower sign, elevated CPK).
  • Male/Females with a negative DMD/BMD test by multiplex PCR, MLPA, or Southern blot.
  • Males/Females with previous DMD/BMD test result with unclear del/dup size and boundary.
  • Females at risk of being a carrier (Previous child or a family history of DMD/BMD).

Ordering Requirements:

  • Orders must be accompanied by a completed PreventionGenetics Standard Requisition or a copy of an order completed in the Prevention portal.
Forms & Requisitions
Synonyms
1773, Becker Muscular Dystrophy (BMD), CGH, DMD, DNA-Muscular Dystrophy, Duchenne MD Diagnosis, Duchenne/Becker Muscular Dystrophy, Dystrophin, Dystrophinopathy
Components

Interpretation

Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes

Reference Range

Ordering & Collection

Specimen Type
Blood
Collection

Whole Blood:

  • 3-5 mL whole blood in LAVENDER TOP (EDTA) tube or YELLOW TOP (ACD)
  • Pediatric: 1 mL whole blood

Cell Culture: 2 T25 flasks of confluent cells.

Direct Amniotic Fluid or Chorionic Villus Sampling (CVS): 10-20 mL of direct amniotic fluid or 5-10 mg cleaned CVS tissue in sterile media or saline. A back-up culture is required for ongoing pregnancies.

DNA:

  • 5 µg -10 µg of purified genomic DNA at a concentration of at least 100 ng/uL in a screw cap tube.
  • Indicate composition of the solute and DNA concentration on the label, along with the patient's name, date of birth, and/or ID number.
  • Only genomic DNA will be accepted. Prevention does not accept products of whole genome amplification reactions or other amplification reactions.
  • DNA must be extracted from a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by CAP and/or CMS.

Fresh Tissue/POC: 15-20 mg or 2 mm x 2 mm x 2mm tissue.

  • Testing on direct tissue: Flash freeze. Tissue should be sent frozen (preferably on dry ice).
  • Tissue for cell culture: Send in sterile media or saline (not frozen). Contact Prevention Genetics at (715) 387-0484 for additional detail.

Saliva/Buccal: Oragene™ or GeneFix™ saliva collection kit or OCD-100 buccal swab collected according to manufacturer instructions.

  • Note: UW-MT DLMP does not stock collection kits. Providers must contact PreventionGenetics directly to obtain a kit.
Forms & Requisitions
Handling Instructions

Outside Laboratories:

  • Store and transport whole blood at ambient temperature.
  • Submit a completed a PreventionGenetics requisition along with the DLMP requisition*.
    • *Use client-specific DLMP requisition when available. To obtain a client-specific DLMP requisition, contact Client Support Services via email at: commserv@uw.edu.

Stability (Whole Blood): Ambient (preferred): 8 days; Refrigerated: 8 days; Frozen: 1 month.

Quantity
Requested: 5 mL EDTA or ACD whole blood. Refer to Collection section for other specimen types.
Minimum: 3 mL EDTA or ACD whole blood. [Pediatric Minimum: 1 mL] Refer to Collection section for other specimen types.

Processing

Receiving Instructions

Store and transport sample(s) at ambient temperature unless otherwise indicated.

  • Other sample types:
    • DNA, Cell Cultures, Saliva, Buccal Swabs, Direct Amniotic Fluid/CV/POC: Ambient temperature.
    • Direct Tissue: Freeze at -20°C.

Login: RPREVS-;AMBIENT

  • RPRCOD: ;Prevention Genetics Test 1773
  • RPRTST: ;Dystrophinopathy via the DMD Gene
  • RPRVSP: [Enter the specimen type using the codes below.]

Specimen Type Codes:

  • WB (Whole Blood)
  • DNAEXT (Extracted DNA)
  • BNM (Bone Marrow)
  • BUCSWB (Buccal Swab)
  • CV (Chorionic Villi)
  • AMN (Amniotic Fluid)
  • CULAMN (Cultured Amniocytes)

Sendouts:

  • Order Prevention Genetics Test: 1773.
  • Ship the sample with a completed requisition Monday through Friday via FedEx Priority Overnight. Shipments sent on Friday must be marked for Saturday Delivery.

Stability (Whole Blood): Ambient (preferred): 8 days; Refrigerated: 8 days; Frozen: 1 month.

Misc Sendout

Performance

Lab Department
Frequency
Turnaround Time: 3 weeks from sample receipt at PreventionGenetics.
Available STAT?
No
Performing Location(s)
Sendout Prevention Genetics, LLC
715-387-0484

3800 S. Business Park Ave
Marshfield, WI 54449

Billing & Coding

Billing Comments

CPTs: 81408, 81161