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Duchenne Muscular Dystrophy, DMD |
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Disease/Test Name
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Gene Name & Method
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Diagnostic Value
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Turn Around Time
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Price
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DMD
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BMD
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-Duchenne Muscular Dystrophy, DMD
- Becker Muscular Dystrophy, BMD
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DMD Deletion & Duplication Analysis
(18 exons)
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Deletions: ~%58-64
Duplications: ~%6
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Deletions: ~%76-84
Duplications: ~%6
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30 Days
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-Duchenne Muscular Dystrophy, DMD
- Becker Muscular Dystrophy, BMD
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DMD Deletion & Duplication Analysis
(79 exons)
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Deletions: ~%65
Duplications: ~%7-10
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Deletions: ~%85
Duplications: ~%6-10
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2-3 Months
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-Duchenne Muscular Dystrophy, DMD
- Becker Muscular Dystrophy, BMD
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DMD Whole Gene Analysis
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%35
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%15
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3-4 Months
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Disease Name (Synonym)
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Disease
OMIM
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Inheritance
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Gene
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Gene
OMIM
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Locus
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Protein
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- Muscular Dystrophy, Pseudohypertrophic
Progressive, Duchenne Type
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310200
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X-Linked
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DMD
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300377
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Xp21.2
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Dystrophin
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- Muscular Dystrophy, Pseudohypertrophic
Progressive, BeckerType
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300376
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DNA
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CDS
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Exon
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2220.38 kb
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11034 bp
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79
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Sample
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Volume
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Tube
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Transport
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Unacceptable Conditions
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Remarks
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BloodEDTA
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5 ml
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Lavender-top
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18-24 C0
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Frozen, hemolyzed specimens
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The sample should be send with written consent of the patient.
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Note-1: DMD/BMD 79 Exon is carrier testing. All analysis that is shown at above indicated for males with symptoms of disease or females who are at risk to be a carrier.
Note-2: Firstly one of the deletion & duplication analyses should be performed. If deletion & duplication is not detected, DMD/BMD whole gene sequence analysis is recommended.
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Last Updated on Thursday, 21 April 2011 18:01 |
