Myotonic Dystrophy DNA Type 2 (Sendout)
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
- GeneDx Neurology Test Requisition
- Synonyms
- 819, CNBP Repeat Analysis, DM2, Dystrophia Myotonica 2, Proximal Myotonic Myopathy (PROMM), Ricker Syndrome
Interpretation
- Method
PCR Fragment Analysis
- 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
- GeneDx Neurology Test Requisition
- 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
- Processing
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.
Performance
- LIS Dept Code
- Performing Location(s)
-
Sendout GeneDx, Inc.
888-729-1206207 Perry Parkway
Gaithersburg, MD 20877 - Frequency
- Turnaround Time: 3 weeks.
- Available STAT?
- No
Billing & Coding
- CPT codes
- Billing Comments
CPT: 81187
- LOINC