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Ehlers Danlos Syndrome Type [1 - 2 - 4 - 6 - 7] |
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Disease/Test Name
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Gene Name & Method
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Diagnostic Value
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Turn Around Time
|
Price
|
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Ehlers Danlos Syndrome Type 1, EDS1
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Biochemical Analysis & Null Allele or COL5A1-COL5A2 Whole Gene Analysis
|
~%50
|
6-12 Months
|
|
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Biochemical Analysis & COL1A1-COL1A2 Whole Gene Analysis
|
nadir
|
6-12 Months
|
|
|
Ehlers Danlos Syndrome Type 2, EDS2
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Biochemical Analysis & Null Allele or COL5A1-COL5A2 Whole Gene Analysis
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~%50
|
6-12 Months
|
|
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Ehlers Danlos Syndrome Type 4, EDS4, Autosomal Dominant
|
Biochemical Analysis & Null Allele or COL3A1 Whole Gene Analysis
|
%98-99
|
6-12 Months
|
|
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Ehlers Danlos Syndrome Type 6, EDS6/6A
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PLOD1 Whole Gene Analysis
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~>%15
|
2-3 Months
|
|
|
Ehlers Danlos Syndrome Type 7A/7B, Autosomal Dominant
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COL1A1 & COL1A2 Sequence Analysis (Exons 5, 6, 7 Splicing Site)
|
x
|
2-3 Months
|
|
|
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Disease Name (Synonym)
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Disease OMIM
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Inheritance
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Gene
|
Gene
OMIM
|
Locus
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Protein
|
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- Ehlers Danlos Syndrome Severe Classic Type 1
- Ehlers Danlos Syndrome, Gravis Type
|
130000
|
Autosomal Dominant
|
COL5A1
|
120215
|
9q34.3
|
Collagen, Type 5, Alpha 1
|
|
DNA
|
CDS
|
Exon
|
|
201.09 kb
|
5517 bp
|
66
|
|
- Ehlers Danlos Syndrome Mild Classic Type
- Ehlers Danlos Syndrome, Mitis Type
|
130010
|
COL5A2
|
120190
|
2q24.3-q31
|
Collagen, Type 5, Alpha 2
|
|
DNA
|
CDS
|
Exon
|
|
147.25 kb
|
4490 bp
|
54
|
|
- Ehlers Danlos Syndrome Vascular Type
- Ehlers Danlos Syndrome, Arterial Type
- Ehlers Danlos Syndrome, Ecchymotic Type
- Ehlers Danlos Syndrome, Sack-Barabas Type
|
130050
|
Autosomal Dominant
|
COL3A1
|
120180
|
2q32.2
|
Collagen, Type 3, Alpha 1
|
|
DNA
|
CDS
|
Exon
|
|
38.00 kb
|
4401 bp
|
51
|
|
- Ehlers Danlos Syndrome, Kyphoscoliotic Type
- Ehlers Danlos Syndrome, Type 6A
- Ehlers Danlos Syndrome, Oculoscoliotic Type
|
225400
|
x
|
PLOD1
|
153454
|
1p36.22
|
Procollagen-Lysine 1, 2-Oxoglutarate 5-Dioxygenase 1
|
|
DNA
|
CDS
|
Exon
|
|
40.85 kb
|
x
|
19
|
|
- Ehlers Danlos Syndrome, Arthrochalasia Type
- Arthrochalasis Multiplex Congenital
- EDS VII, Mutant Procollagen Type
|
130060
|
Autosomal Dominant
|
COL1A1
|
120150
|
17q21.33
|
Collagen, Type I, Alpha 1
|
|
DNA
|
CDS
|
Exon
|
|
17.54 kb
|
4395 bp
|
51
|
|
COL1A2
|
120160
|
7q21.3
|
Collagen, Type I, Alpha 2
|
|
DNA
|
CDS
|
Exon
|
|
36.3 kb
|
4101 bp
|
52
|
|
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Test Name
|
Sample
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Volume
|
Tube
|
Transport
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Unacceptable Conditions
|
Remarks
|
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Ehlers Danlos Syndrome Type 1, 2, 4
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Skin punch biopsy
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5-10 mg
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Sterile Container (which must contains transport medium)
|
18-24 C0
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Frozen and fixatives other then formaldehyde.
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Fibroblast culture use in fibroblast SDS-PAGE. Also mRNA of fibroblast culture is isolated and converted to cDNA.
|
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Ehlers Danlos Syndrome Type 6, 7
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BloodEDTA
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5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, hemolyzed specimens
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The sample should be send with written consent of the patient.
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Last Updated on Friday, 30 December 2011 12:00 |
