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Test Code MP0 UM Myelin Protein Zero Sequencing

Clinical System Name

Myelin Protein Zero Sequencing

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.  MPZ gene mutations are associated with CMT1B and account for 10-12% of CMT1.

 

Sample Requirements

Specimen: Whole Blood

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

Preferred Vol: 10 mL

Minimum Vol: 10 mL

 

Notes

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Affix a large label to the tube and place in refrigerator send outs rack.

 

Off-site collection: Send whole blood refrigerated.

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 21 d

 

Performing Laboratory

Athena Diagnostics

Department

Department:  Athena Diagnostics, 200 Forest Street, 2nd Floor, Marlborough, MA 01752

Phone Number: (800) 394-4493

Reference Range

Interpretive report is provided.

Methodology

Method: Polymerase Chain Reaction (PCR) and DNA sequencing

Analytical Volume:

Limitations:

CPT Codes

81405x1 (updated 1/30/2015 by sstasi)

Special Instructions

Links to:

Athena Diagnostics

 

Best Practice Recommendations - Charcot-Marie-Tooth Hereditary Neuropathy

 

Send Out Instructions

Reference Test Name: Myelin Protein Zero (MPZ) DNA Sequencing Test
Reference Test Number: 134
Instructions: Ship overnight via FedEx. Keep a copy of the requisition for our records. Athena does NOT accept Saturday Delivery for this test.