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Test Code PMP22DDUM PMP22 Duplication/Deletion DNA

Clinical System Name

PMP22 Duplication/Deletion DNA

Synonyms

Charcot-Marie-Tooth Hereditary Neuropathy

CMT

Description

Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy.  Charcot Marie Tooth type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity (typically 5-30 m/sec; normal: >40-45 m/sec). It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between ages five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened. The six subtypes of CMT1 are clinically indistinguishable and are designated solely on molecular findings. Identification of the genetic cause of CMT is useful for recurrence risk counseling, natural history studies and participation in clinical trials.  PMP22 gene mutations are associated with CMT1A and account for 70-80% of CMT1.

 

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 4 mL

Minimum Vol: 2 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 800 nanograms

Minimum Vol: 600 nanograms

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: RT

Storage location: Place sample in CPA room-temp send-outs rack. Store extra labels and copy of requisition in clear plastic box on the CPA fridge.

 

Off-site collection: Send whole blood room temperature.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y

 

Availability

STAT TAT
N 2 -4 w

 

Performing Laboratory

MNG Laboratories

Department

Department:  MNG Laboratories, 5424 Glenridge Dr, Atlanta, GA 30342

Phone Number: (678) 225-0222

Reference Range

Interpretive report is provided.

Methodology

Method: Detects rearrangements in the PMP22 gene.This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP. Multiplex Ligation-dependent Probe Amplification

Analytical Volume:

Limitations:

Special Instructions

Links to:

MNG Laboratories

 

Send Out Instructions

Reference Test Name:
Reference Test Number:
Instructions: Ship at room temperature, avoid freezing sample. Send overnight via FedEX. Medical Neurogenetics Lab does not accept Priority Delivery on a Saturday for this test.