|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Bardet-Biedl Syndrome
|
BBS1 Whole Gene Analysis
|
18-32%
|
2-3 Months
|
|
|
BBS2 Whole Gene Analysis
|
8%
|
2-3 Months
|
|
|
BBS10 Whole Gene Analysis
|
~20%
|
2-3 Months
|
|
|
BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10, BBS12, PHF6, ALMS1, GNAS1 Mikroarray Analysis
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Bardet-Biedl Syndrome1, BBS
|
209900
|
Autosomal Recessive
|
BBS1
|
209901
|
11q13.1
|
Bardet-Biedl Syndrome 1
|
|
DNA
|
CDS
|
Exon
|
|
22.97 kb
|
1782 bp
|
17
|
|
- Bardet-Biedl Syndrome 2, BBS
|
BBS2
|
606151
|
16q13
|
Bardet-Biedl Syndrome 2
|
|
DNA
|
CDS
|
Exon
|
|
35.90 kb
|
2166 bp
|
17
|
|
- Bardet-Biedl Syndrome 10, BBS
|
BBS10
|
610148
|
12q21.2
|
Bardet-Biedl Syndrome 10
|
|
DNA
|
CDS
|
Exon
|
|
3.96 kb
|
x
|
2
|
|
|
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 الخميس, 14 أبريل/نيسان 2011 18:16 |
