|
Biotinidase Deficiency Genetic Analysis |
|
Code
|
Test Name
|
Method
|
Mutations/ Exons
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
x
|
Biotinidase Deficiency Genetic Analysis
|
Targeted Mutation Analysis
|
9 Mutations: D444H, A171T,
F403V, G98, 7-BP DEL/3-BP INS, Q456H, R157H, R538C, D252G
|
~60%
|
2-3 Months
|
|
|
x
|
Sequencing
|
BTD Whole Gene Analysis
|
~99%
|
2-3 Months
|
|
|
|
Disease
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Biotinidase Deficiency
- Multiple Carboxylase Deficiency, Late-Onset
- Multiple Carboxylase Deficiency, Juvenile-Onset
- BTD deficiency
|
253260
|
Autosomal Recessive
|
BTD
|
609019
|
3p25
|
Biotinidase
|
|
DNA
|
CDS
|
Exon
|
|
44.00 Kb
|
1632 bp
|
4
|
|
|
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.
|
|
| |
|
