Myotonic Dystrophy DNA Type 2 (Sendout)

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General Information

Lab Name
Lab Code
755
External Test Id
819
Description

Ordering Recommendation: DM2 is an autosomal dominant disorder caused by an expansion of the CCTG tetranucleotide repeat within the complex repeat motif in intron 1 of the CNBP (also known as ZNF9) gene. This test is appropriate for patients with a negative DM1 or a family history of DM2.

Ordering Requirements: Orders for this test must be accompanied by a completed GeneDx Neurology Requisition.

Forms & Requisitions
Synonyms
819, CNBP Repeat Analysis, DM2, Dystrophia Myotonica 2, Proximal Myotonic Myopathy (PROMM), Ricker Syndrome
Components

Interpretation

Method

PCR Fragment Analysis

Reference Range
Interferences and Limitations

Blood is not accepted if the patient has ever received an allogeneic bone marrow/stem cell transplant. For patients who pursue genetic testing, DNA from cultured fibroblasts is the required specimen type. GeneDx can provide a punch biopsy kit and can culture fibroblasts on site, as needed. Contact GeneDx at (301) 519-2100 or support@genedx.com for additional information.

Ordering & Collection

Specimen Type
Blood
Collection

5 mL blood in LAVENDER TOP (EDTA) tube

Forms & Requisitions
Handling Instructions

Outside Laboratories: Transport whole blood at ambient temperature. If shipment is delayed, specimens may be refrigerated up to 7 days. Orders must be accompanied by a completed GeneDx Neurology requisition.

Stability: Ambient: 24 hours; Refrigerated: 7 days; Frozen: Unacceptable.

Reject Due To: Blood specimens will be rejected if frozen, hemolyzed, or clotted.

Quantity
Requested: 5 mL EDTA whole blood
Minimum: 2 mL EDTA whole blood; Infants: 1-2 mL

Processing

Receiving Instructions

Store and transport whole blood at ambient temperature.

  • Samples that will not be sent out the same day as collection should be refrigerated.

Login: GSEND1-;ROOM TEMP

  • GSNDT1: GENEDX
  • GSTYP1: WB
  • GTSRQ1: ;CNBP Repeat Analysis (GeneDx Test 819)

Sendouts:

  • GeneDx Test: 819.
  • Send sample at ambient temperature with accompanying requisition via FedEx Priority Overnight.
    • Samples not sent out the day of collection should be stored and shipped refrigerated.
  • If shipping samples on a Friday, ensure that "Saturday Delivery" is marked on the FedEx label.

Stability: Ambient: 24 hours; Refrigerated: 7 days; Frozen: Unacceptable.

  • Blood specimens older than 7 days can still be shipped; they will be tested if the yield and quality of DNA permit.

Reject Due To: Blood specimens will be rejected if frozen, hemolyzed, or clotted.

Misc Sendout

Performance

Lab Department
Frequency
Turnaround Time: 3 weeks.
Available STAT?
No
Performing Location(s)
Sendout GeneDx, Inc.
888-729-1206

207 Perry Parkway
Gaithersburg, MD 20877

Billing & Coding

Billing Comments

CPT: 81187