|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Time
|
Price
|
|
Neuroferritinopathy
|
Hyperferritinemia Cataract Syndrome
|
|
FTL Genetic Analysis
|
FTL Whole Gene Analysis
|
80%
|
x
|
1-2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
|
- Basal Ganglia Disease, Adult Onset
- Neuroferritinopathy
|
606159
|
Autosomal Dominant
|
FTL (IRE)
|
134790
|
19q13.3-q13.4
|
Ferritin Light Chain
|
|
|
- Hyperferritinemia Cataract Syndrome
- Hyperferritinemia, Hereditary, With
Congenital Cataracts
|
600886
|
|
|
DNA
|
CDS
|
Exon
|
|
|
1.56 kb
|
528 bp
|
4
|
|
|
|
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 Wednesday, 20 July 2011 10:17 |
