|
Crigler-Najjar Syndrome Type1, Type2 (CNS1, CNS2) |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Crigler-Najjar Syndrome Type1 & Type2
CNS1 & CNS2
|
UGT1A1 Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Crigler-Najjar Syndrome Type1, CNS1
|
218800
|
Autosomal Recessive
|
UGT1A1
|
191740
|
2q37
|
UDP-Glucuronosyltransferase1 Family, Polypeptide A1
|
|
- Crigler-Najjar Syndrome Type 2, CNS2
|
606785
|
DNA
|
CDS
|
Exon
|
|
13 kb
|
x
|
5
|
|
|
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 Thursday, 21 April 2011 11:15 |
