|
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Code
|
Test Name
|
Method
|
Mutation/Exon
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
x
|
- Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
|
Sequencing
|
HADHA Whole Gene Analysis
|
> 99 %
|
6 – 7 Months
|
|
|
Common Mutation Analysis
|
1528G>C & 1132 C>T
|
1-2 Months
|
|
|
|
Disease
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
- LCHAD Deficiency
|
609016
|
Autosomal Recessive
|
HADHA
|
600890
|
2p23.3
|
Trifunctional Protein, alpha subunit
|
|
DNA
|
CDS
|
Exon
|
|
53.98 Kb
|
2292 bp
|
20
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
| |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
3-Hydroxyacyl-Coa
Dehydrogenase Deficiency, LCHAD
|
HADHA Whole Gene Analysis
|
> 99 %
|
6 – 7 Months
|
|
|
HADHA Mutation Analysis
(1528G>C & 1132 C>T)
|
1-2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Long-Chain 3-Hydroxyacyl-Coa
Dehydrogenase Deficiency
- LCHAD Deficiency
|
609016
|
Autosomal Recessive
|
HADHA
|
600890
|
2p23.3
|
Trifunctional Protein, Alpha Subunit
|
|
DNA
|
CDS
|
Exon
|
|
53.98 kb
|
2292 bp
|
20
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, hemolyzed specimens
|
The sample should be send with written consent of the patient.
|
|
| |
|
|
Last Updated on Monday, 31 January 2011 14:55 |
