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Test Code MDMyop UM MD/Myopathy Sequencing Panel

Clinical System Name

MD/Myopathy Sequencing Panel

Synonyms

Comprehensive Muscular Dystrophy/Myopathy + mtDNA
 

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 4.0 mL

Minimum Vol: 2.0 mL

 

Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 4 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0)

Minimum Vol: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0)

 

Alternative Specimen: Buccal swab

 

 

Specimen: Cultured Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Minimum Vol: 2  flasks

 

Specimen: Muscle

Container(s): snap-frozen in liquid nitrogen and maintained at -80°Celsius or below.

Preferred Vol: 50-75 mg

Minimum Vol: 50-75 mg

Stability

Specimen Type Temperature Time
Whole Blood Room temp 7-10 d
Whole Blood Refrigerated 7-10 d
Whole Blood Frozen Unacceptable
Extracted DNA Room temp 7-10 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 2 - 4 w

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage location: Affix a large Cerner label to the sample(s) and place in the room temperature Send Outs rack.

 

Off-site collection: Send whole blood refrigerated.

Performing Laboratory

MNG Labs

5424 Glenridge Drive NE

Atlanta, GA 30342

 

Phone: (678) 225-0222

Department

Department: Send Outs

Phone: (206) 987-2563

Methodology

Method: Next Generation DNA Sequencing of >700 genes + mtDNA analysis

 

Gene list

 

 

Reference Range

Interpretive report is provided.

Special Instructions

Links to:

 

Requisition

 

MNG Laboratories

 

Send Out Instructions

Reference Test Name: Comprehensive Muscular Dystrophy/Myopathy + mtDNA
Reference Test Number: NGS330
Instructions: Ship at room temperature, avoid freezing sample. Send via FedEx Priority overnight shipping. Medical Neurogenetics Lab does NOT accept Priority Delivery on Saturdays for this test.

 

Description

Congenital myopathies and congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of disorders, characterized by hypotonia and poor reflexes at birth or in the first years of life. They were traditionally classified by clinical phenotypes, histopathology, and creatine kinase levels. Currently molecular diagnosis is used to distinguish the subtypes. Variable age of onset and disease severity is observed between the congenital myopathies and CMDs.

 

This panel is a comprehensive Muscular Dystrophy/Myopathy panel that includes sequencing and copy number analysis of >700 genes plus mtDNA analysis.