|
Bartter Syndrome Type [1-2-3-4] |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Bartter Syndrome Type 1
|
SLC12A1 Whole Gene Analysis
|
x
|
6-7 Months
|
|
|
Bartter Syndrome Type 2
|
KCNJ Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
Bartter Syndrome Type 3
|
CLCNKB Whole Gene Analysis
|
x
|
6-7 Months
|
|
|
Bartter Syndrome Type 4
|
BSND Whole Gene Analysis
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease
OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Bartter Syndrome Type 1
|
601678
|
Autosomal Recessive
|
SLC12A1
|
600839
|
15q15-q21.1
|
Solute Carrier Family 12 Member 1
|
|
DNA
|
CDS
|
Exon
|
|
95.23 kb
|
3247 bp
|
25
|
|
-Bartter Syndrome Type 2
- Hyperprostaglandin E Syndrome
|
241200
|
Autosomal Recessive
|
KCNJ1
|
600359
|
11q25
|
ATP-Sensitive Inward Rectifier Potassium Channel 1
|
|
DNA
|
CDS
|
Exon
|
|
29.35 kb
|
1809 bp
|
2
|
|
-Bartter Syndrome Type 3
-Classic Bartter Syndrome
|
607364
|
Autosomal Recessive
|
CLCNKB
|
602023
|
1p36
|
Chloride Channel Protein ClC-Kb
|
|
DNA
|
CDS
|
Exon
|
|
13.00 kb
|
2064 bp
|
20
|
|
-Bartter Syndrome Type 4
-Infantile Bartter Syndrome with
Sensorineural Deafness
|
602522
|
Autosomal Recessive
|
BSND
|
606412
|
1p31
|
Barttin
|
|
DNA
|
CDS
|
Exon
|
|
9.85 kb
|
963 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.
|
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Last Updated on Friday, 15 April 2011 18:17 |
