Fructose-1,6-Bisphosphatase Deficiency
 

Disease/Test Name

Gene Name & Method

Diagnostic Value

Turn Around Time

Price

Fructose-1,6-Bisphosphatase Deficiency

FBP1 Whole Gene Analysis

~<75%

1 Month

Ücret / Price

Disease Name (Synonym)

Disease  OMIM

Inheritance

Gene

Gene OMIM

Locus

Protein

- Fructose-1,6 Bisphosphatase Deficiency

229700

Autosomal Recessive

FBP1

611570

9q22.32

Fructose-1,6 Bisphosphatase 1

DNA

CDS

Exon

36.51 kb

1017 bp

7

 

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 Friday, 29 April 2011 16:31
 
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