|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Alkaptonuria, AKU
|
HGD Whole Gene Analysis
|
90%
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Homogentisic Acid Oxidase Deficiency
|
203500
|
Autosomal Recessive
|
HGD (HGO)
|
607474
|
3q21-q23
|
Homogentisate 1,2-Dioxygenase
|
|
DNA
|
CDS
|
Exon
|
|
54.11 kb
|
1338 bp
|
14
|
|
|
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 Tuesday, 01 February 2011 16:59 |
