|
Focal Segmental Glomerulosclerosis Type [1 - 2 - 3] |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Focal Segmental Glomerulosclerosis Type 1, FSGS1
|
ACTN4 Whole Gene Analysis
|
<%50
|
2 Months
|
|
|
Focal Segmental Glomerulosclerosis Type 2, FSGS2
|
TRPC6 Whole Gene Analysis
|
2 Months
|
|
|
Focal Segmental Glomerulosclerosis Type 3, FSGS3
|
CD2AP Whole Gene Analysis
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Focal Segmental Glomerulosclerosis Type 1
|
603278
|
Autosomal Dominant
|
ACTN4
|
604638
|
19q13
|
Actinin, Alpha 4
|
|
DNA
|
CDS
|
Exon
|
|
83 kb
|
2736 bp
|
21
|
|
- Focal Segmental Glomerulosclerosis Type 2
|
603965
|
Autosomal Dominant
|
TRPC6
|
603652
|
11q21-q22
|
Transient Receptor Potential Cation Channel, Subfamily C, Member 6
|
|
DNA
|
CDS
|
Exon
|
|
132.29 kb
|
2796 bp
|
13
|
|
- Focal Segmental Glomerulosclerosis Type 3
|
607832
|
Autosomal Dominant/ Autosomal Recessive
|
CD2AP
|
604241
|
6p12.3
|
CD2-Associated Protein
|
|
DNA
|
CDS
|
Exon
|
|
148.71 kb
|
1920 bp
|
18
|
|
|
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.
|
|
| |
|
|
آخر تحديث يوم الجمعة, 29 أبريل/نيسان 2011 10:59 |
