|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Fraser Syndrome
|
FREM2 & FRAS1 15 Mutation Analysis
|
x
|
2 Months
|
|
|
FREM2 & FRAS1 Sequence Analysis
(Exon 6, Q1972K Mutation included)
|
x
|
2 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Cryptophthalmos with Other
Malformations
- Cryptophthalmos-Syndactyly
Syndrome
|
219000
|
Genetic Heterogeneity
|
FRAS1
|
607830
|
4q21.1
|
Fraser Syndrome 1
|
|
DNA
|
CDS
|
Exon
|
|
486.33 kb
|
1178 bp
|
74
|
|
FREM2
|
608945
|
13q13.3
|
FRAS1 Related Extracellular Matrix Protein 2
|
|
DNA
|
CDS
|
Exon
|
|
200.10 kb
|
x
|
24
|
|
|
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.
|
|
| |
|
|
آخر تحديث يوم الجمعة, 29 أبريل/نيسان 2011 11:30 |
