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11-Beta-Hydroxylase Deficiency |
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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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11-Beta-Hydroxylase Deficiency
|
CYP11B1 Whole Gene Analysis
|
x
|
2-3 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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- Steroid 11-Beta-Hydroxylase Deficiency
- 11-Beta- Hydroxylase Deficiency
- Adrenal Hyperplasia IV
- P450C11B1 Deficiency
|
202010
|
Autosomal Recessive
|
CYP11B1
|
610613
|
8q21
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Steroid 11-Beta-Monooxygenase Polypeptide 1
|
|
DNA
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CDS
|
Exon
|
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6,02 kb
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1512 bp
|
9
|
|
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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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Last Updated on Monday, 31 January 2011 15:04 |
