|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Bernard-Soulier Syndrome
|
GP1BA Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
GP1BB Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
GP9 Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Bernard-Soulier Syndrome,
Autosomal Dominant
|
153670
|
Autosomal Dominant or Recessive
|
GP1BA
|
606672
|
17p13.2
|
Glycoprotein 1B (Platelet), Alpha Polypeptide
|
|
DNA
|
CDS
|
Exon
|
|
1.55 kb
|
1281 bp
|
3
|
|
- Platelet Glycoprotein 1B Deficiency
- Deficiency Of Glycoprotein 1B Platelet
- Von Willebrand Factor Receptor Deficiency
- Bernard-Soulier Syndrome, Type A
- Bernard-Soulier Syndrome, Type B
- Bernard-Soulier Syndrome, Type C
|
231200
|
Autosomal Recessive
|
GP1BB
|
138720
|
22q11.21
|
Glycoprotein 1B (Platelet), Beta Polypeptide
|
|
DNA
|
CDS
|
Exon
|
|
2.35 kb
|
621 bp
|
2
|
|
GP9
|
173515
|
3q21.3
|
Glycoprotein IX (Platelet)
|
|
DNA
|
CDS
|
Exon
|
|
1.61 kb
|
534 bp
|
3
|
|
|
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 السبت, 16 أبريل/نيسان 2011 16:02 |
