|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Alport Syndrome,
X-linked
|
COL4A5 Whole Gene Analysis
|
> 80%
|
2 Months
|
|
|
COL4A5 Deletion/Duplication Analysis
|
For women: ~10 %
|
3-4 Months
|
|
|
Alport Syndrome,
Autosomal Recessive/Dominant
|
COL4A3 & COL4A4 Whole Gene Analysis
|
100 %
|
3-4 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement
Membrane Nephropathy)
|
301050
|
X-Linked
|
COL4A5
|
303630
|
Xq22
|
Collagen, Type IV, Alpha-5
|
|
DNA
|
CDS
|
Exon
|
|
257.62 kb
|
5067 bp
|
53
|
|
- Nephropathy And Deafness
- Alport Syndrome Autosomal
Recessive or Dominant
|
203780/
104200
|
Autosomal Recessive/ Dominant
|
COL4A3
|
120070
|
2q37.1
|
Collagen, Type IV, Alpha 3 (Goodpasture Antigen)
|
|
DNA
|
CDS
|
Exon
|
|
150.23 kb
|
5013 bp
|
51
|
|
COL4A4
|
120131
|
2q35-q37.1
|
Collagen, Type IV, Alpha 4
|
|
DNA
|
CDS
|
Exon
|
|
159.35 kb
|
5073 bp
|
48
|
|
|
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 17:08 |
