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Cornelia de Lange Syndrome [1 - 2] |
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Disease/Test Name
|
Gene Name & Method
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Diagnostic Value
|
Turn Around Time
|
Price
|
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Cornelia de Lange Syndrome 1, CDLS1
|
NIPBL Whole Gene Analysis
|
50%
|
2-3 Months
|
|
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Cornelia de Lange Syndrome 2, CDLS2
|
SMC1A Whole Gene Analysis
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5-10%
|
2-3 Months
|
|
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Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Typus Degenerativus Amstelodamensis
- De Lange Syndrome
- Brachmann-De Lange Syndrome, BDLS
|
122470
|
Autosomal Dominant
|
NIPBL
|
608667
|
5p13.2
|
Nipped-B Homolog
|
|
DNA
|
CDS
|
Exon
|
|
189.00 kb
|
x
|
47
|
|
- Cornelia de Lange Syndrome 2, CDLS2
- Cornelia De Lange Syndrome, X-Linked
- CDLS, X-Linked
|
300590
|
X-linked
|
SMC1A
|
300040
|
Xp11.22
|
Structural Maintenance Of Chromosomes 1A
|
|
DNA
|
CDS
|
Exon
|
|
48.55 kb
|
x
|
25
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, hemolyzed specimens
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The sample should be send with written consent of the patient.
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Last Updated on Thursday, 21 April 2011 10:54 |
