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Test Code LAB1878 MD/Myopathy Sequencing Panel

Additional Codes


Clinical System Name

MD/Myopathy Sequencing Panel


Comprehensive Muscular Dystrophy/Myopathy + mtDNA; MDMYOP; Muscular Dystrophy/Myopathy Sequencing Panel

Sample Requirements

Preferred Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 4.0 mL

Minimum Vol: 2.0 mL


Alternative Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 1 ug (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: 800 ng (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 (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing


Alternative Specimen: Cultured Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Minimum Vol: 2  flasks


Alternative Specimen: Muscle

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

Preferred Vol: 50-75 mg

Minimum Vol: 50-75 mg

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 8 C

Storage Location: Affix a large Epic label to the sample(s) and place in the CPA refrigerator Send Outs rack.


Off-site Collection: Send whole blood refrigerated.


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
Buccal Swab Room temp 60 d



N 2 - 4 w


Performing Laboratory

MNG Laboratories

5424 Glenridge Drive NE

Atlanta, GA 30342


Phone: (678) 225-0222


Department: Send Outs

Phone: (206) 987-2563


Method: Next Generation DNA Sequencing of >900 genes + mtDNA analysis

Reference Range

Interpretive report is provided.

Send Out Instructions

Reference Test Name: Comprehensive Muscular Dystrophy/Myopathy (NGS Panel and Copy Number Analysis + mtDNA)
Reference Lab Test Code: NGS330
Instructions: Ship at room temperature, avoid freezing sample. Send via FedEx Priority Overnight. Saturday deliveries are accepted.


Special Instructions

Links to:


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 >900 genes plus mtDNA analysis.