|
Ehlers Danlos Syndrome Type [1 - 2 - 4 - 6 - 7] |
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Ehlers Danlos Syndrome Type 1, EDS1
|
Biochemical Analysis & Null Allele or COL5A1-COL5A2 Whole Gene Analysis
|
~%50
|
6-12 Months
|
|
|
Biochemical Analysis & COL1A1-COL1A2 Whole Gene Analysis
|
nadir
|
6-12 Months
|
|
|
Ehlers Danlos Syndrome Type 2, EDS2
|
Biochemical Analysis & Null Allele or COL5A1-COL5A2 Whole Gene Analysis
|
~%50
|
6-12 Months
|
|
|
Ehlers Danlos Syndrome Type 4, EDS4, Autosomal Dominant
|
Biochemical Analysis & Null Allele or COL3A1 Whole Gene Analysis
|
%98-99
|
6-12 Months
|
|
|
Ehlers Danlos Syndrome Type 6, EDS6/6A
|
PLOD1 Whole Gene Analysis
|
~>%15
|
2-3 Months
|
|
|
Ehlers Danlos Syndrome Type 7A/7B, Autosomal Dominant
|
COL1A1 & COL1A2 Sequence Analysis (Exons 5, 6, 7 Splicing Site)
|
x
|
2-3 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene
OMIM
|
Locus
|
Protein
|
|
- 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
|
|
|
Test Name
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
Ehlers Danlos Syndrome Type 1, 2, 4
|
Skin punch biopsy
|
5-10 mg
|
Sterile Container (which must contains transport medium)
|
18-24 C0
|
Frozen and fixatives other then formaldehyde.
|
Fibroblast culture use in fibroblast SDS-PAGE. Also mRNA of fibroblast culture is isolated and converted to cDNA.
|
|
Ehlers Danlos Syndrome Type 6, 7
|
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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آخر تحديث يوم الجمعة, 30 دجنبر/كانون أول 2011 12:00 |
