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HelpTest Code LAB1878 MD/Myopathy Sequencing Panel
Additional Codes
MD/Myopathy
Clinical System Name
MD/Myopathy Sequencing Panel
Synonyms
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.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room temp | 5 d |
| Whole Blood | Refrigerated | 5 d |
| Whole Blood | Frozen | Unacceptable |
| Extracted DNA | Room temp | 30 d |
| Extracted DNA | Refrigerated | 30 d |
| Extracted DNA | Frozen | Indefinitely |
| Buccal Swab | Room temp | 60 d |
Availability
| STAT | TAT |
|---|---|
| N | 2 - 4 w |
Performing Laboratory
MNG Laboratories
5424 Glenridge Drive NE
Atlanta, GA 30342
Phone: (678) 225-0222
Department
Department: Send Outs/Genetic
Phone: (206) 987-2563
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. |
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 >900 genes plus mtDNA analysis.