|
Severe Congenital Neutropenia, Autosomal Recessive |
|
Disease/Test Name
|
Gene Name & Method
|
% In patients
|
Analytic Sensitivity
|
Turn Around Time
|
Price
|
|
Severe Congenital Neutropenia, Autosomal Recessive
|
HAX1 Whole Gene Analysis
|
10-30%
|
99%
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Kostmann Syndrome
|
610738
|
Autosomal Recessive
|
HAX1
|
605998
|
1q21.3
|
HCLS1-Associated Protein X-1
|
|
DNA
|
CDS
|
Exon
|
|
3.31 kb
|
840 bp
|
7
|
|
|
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.
|
|
| |
|
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Last Updated on Friday, 14 October 2011 17:13 |
