PMP22 Duplication/Deletion (Sendout)
General Information
- Lab Name
- PMP22 Duplication/Deletion
- Lab Code
- RPMPDD
- Epic Name
- PMP22 DUPLICATION/DELETION
- External Test Id
- 742
- Description
Clinical Utility:
- Confirmation of clinical diagnosis
- Identification of at-risk family members
- Assist with management/treatment decisions
- For additional information, review GeneDx Test Information: PMP22Del/Dup.
Ordering Requirements:
- A completed GeneDx Neurology Test Requisition must accompany all orders. [Test #742, CMT1A/HNPP (PMP22 del/dup) is listed at the bottom of page 4 under "Neuromuscular Disorders."]
- Forms & Requisitions
- GeneDx Neurology Test Requisition
- Synonyms
- 742, Charcot Marie Tooth Type 1A, CMT1A DNA Test, Hereditary Neuropathy with Liability to Pressure Palsy, HNPP
- Components
-
Code Name RPMPDI PMP_22 Interpretation RPMPDR PMP_22 results RPMPDC PMP_22 Comments
Interpretation
- Method
Exon Array CGH
- Reference Range
- See individual components
- Ref. Range Notes
An interpretive report will be provided.
Ordering & Collection
- Specimen Type
- Blood
- Collection
-
5 mL blood in LAVENDER TOP (EDTA) tube
- Forms & Requisitions
- GeneDx Neurology Test Requisition
- Handling Instructions
Outside Laboratories:
- Store and transport whole blood and ambient temperature. If shipment is delayed, samples may be refrigerated up to 7 days.
- Submit orders with a completed GeneDx requisition.
Stability: Can be refrigerated up to 7 days. Allow for additional transport time from UW-MT to GeneDx.
Rejection: Blood specimens will be rejected if frozen, hemolyzed or clotted.
- Quantity
-
Requested: 5 mL EDTA whole blood
Minimum: 2 mL EDTA whole blood
Processing
- Receiving Instructions
Store blood at ambient temperature. If shipment is delayed, refrigerate sample.
Sendouts:- GeneDx Test: 742.
- Ship samples Monday - Saturday at ambient temperature via FedEx Priority Overnight.
- If shipping on a Friday, select the FedEx "Saturday Delivery" option.
Stability: Can be refrigerated up to 7 days before shipping. Blood specimens older than 7 days can still be sent; they will be tested if the yield and quality of DNA permit.
Rejection: Blood specimens will be rejected if frozen, hemolyzed or clotted.
- Misc Sendout
Performance
- Lab Department
- Sendouts(SO)
- Frequency
- Turnaround Time: 2 weeks from sample receipt at GeneDx.
- Available STAT?
- No
- Performing Location(s)
-
Sendout GeneDx, Inc.
888-729-1206207 Perry Parkway
Gaithersburg, MD 20877
Billing & Coding
- CPT Codes
- 81324
- LOINC
- 30896-5