|
Basal Cell Nevus Syndrome |
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Disease/Test Name
|
Gene Name & Method
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Diagnostic Value
|
Turn Around Time
|
Price
|
|
Basal Cell Nevus Syndrome
|
PTCH1 Whole Gene & Deletion/Duplication Analysis
|
56-91%
|
3-4 Months
|
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Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- Gorlin Syndrome
- Gorlin-Goltz Syndrome
- Nevoid Basal Cell Carcinoma Syndrome, NBCCS
- Multiple Basal Cell Nevi, Odontogenic
Keratocysts, And Skeletal Anomalies
|
109400
|
Autosomal Dominant
|
PTCH1 (PTCH)
|
601309
|
9q22.32-q22.33
|
Patched Homolog 1
|
|
DNA
|
CDS
|
Exon
|
|
74.00 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.
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Last Updated on Friday, 15 April 2011 18:27 |
