|
Beckwith-Wiedemann Syndrome |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Beckwith-Wiedemann Syndrome
|
KCNQ1OT1 Methylation Analysis
|
~%50-60
|
3 Months
|
|
|
H19 Methylation Analysis
|
2-7%
|
|
UPD Analysis (Chromosome 11p15.5 Paternal)
|
10-20%
|
4 Months
|
|
|
CDKN1C Whole Gene Analysis
|
5-10% in simplex cases
|
3 Months
|
|
|
~40% in Autosomal Dominant Families
|
|
FISH Analysis (11p15.1-p15.2)
|
1-2%
|
1 Month
|
|
|
Karyogram
|
1-2%
|
20 Days
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Exomphalos-Macroglossia
Gigantism Syndrome
|
105830
|
x
|
KCNQ1OT1
|
604115
|
11p15.5
|
Cyclin-Dependent Kinase Inhibitor 1C
|
|
DNA
|
CDS
|
Exon
|
|
x
|
x
|
x
|
|
H19
|
103280
|
H19 Maternally Expresed Untranslated mRNA
|
|
DNA
|
CDS
|
Exon
|
|
2,7 kb
|
x
|
5
|
|
CDKN1C
|
600856
|
Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 1
|
|
DNA
|
CDS
|
Exon
|
|
2,10 kb
|
951 bp
|
3
|
|
BWS (Critical Gene Region)
|
x
|
x
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
Sequence Analysis
|
BloodEDTA
|
3-5 ml
|
Lavender-top
|
2-8 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
UPD
|
|
Methylation Studies
|
|
|
Test Method
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
FISH & Chromosome Analysis
|
BloodHep
|
3-5 ml
|
Green-top
|
2-8 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
Amniotic Fluid
|
10-20 ml
|
Injector
|
|
CVS
|
10 mg
|
Transport Medium
|
|
|
*Please contact with our lab for prenatal diagnosis
|
|
|
آخر تحديث يوم السبت, 16 أبريل/نيسان 2011 15:47 |
