|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Farber Disease
|
ASAH1 Whole Gene Analysis
|
~90%
|
3-4 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Farber Lipogranulomatosis
- Ceramidase Deficiency
- Acid Ceramidase Deficiency
- AC Deficiency
- N-Laurylsphingosine
Deacylase Deficiency
|
228000
|
Autosomal Recessive
|
ASAH1 (ASAH)
|
228000
|
8p22-p21.3
|
- N-Acylsphingosine
Amidohydrolase (ASAH)
- Acid Ceramidase (AC)
|
|
DNA
|
CDS
|
Exon
|
|
28.54 kb
|
1185 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 Monday, 25 April 2011 10:44 |
