|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Phenylketonuria, PKU
|
PAH Mutation Analysis
(L48S, R158Q, R261Q, G272X, R408W, IVS10nt546)
|
30-50%
|
30 Days
|
|
|
PAH Sequence Variants
|
99%
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- PAH Deficiency
- Hyperphenylalaninemia
|
261600
|
Autosomal Recessive
|
PAH
|
x
|
12q24.1
|
Phenylalanine Hydroxylase
|
|
DNA
|
CDS
|
Exon
|
|
79,28 kb
|
1359 bp
|
13
|
|
|
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 Monday, 25 April 2011 12:05 |
