|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Autism Panel 1- Female
(Female with Autism Spectrum Disorder and Macrocephaly)
|
CGH Array
(All Known Chromosomal Regions Associated With Autism Spectrum Disorders)
|
≥6-15%
|
3-4 Months
|
|
|
PTEN Whole Gene Analysis
|
3-17%
|
|
MECP2 Whole Gene Analysis
|
≥3%
|
3 Months
|
|
|
CDKL5 Whole Gene Analysis
|
- For patients with early
onset seizures: 6-17%
- Overall: low
|
4-5 Months
|
|
|
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Autism Panel 2- Female
(Female with Autism Spectrum Disorder and No Macrocephaly)
|
CGH Array
(All Known Chromosomal Regions Associated With Autism Spectrum Disorders)
|
≥6-15%
|
2-3 Months
|
|
|
MECP2 Whole Gene Analysis
|
>3-13%
|
|
CDKL5 Whole Gene Analysis
|
- For patients with early
onset seizures: 6-17%
- Overall: low
|
4-5 Months
|
|
|
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Autism Panel 1- Male
(Male with Autism Spectrum Disorder and Macrocephaly)
|
CGH Array
(All Known Chromosomal Regions Associated With Autism Spectrum Disorders)
|
≥6-15%
|
3-4 Months
|
|
|
PTEN Whole Gene Analysis
|
3-17%
|
|
CDKL5 Whole Gene Analysis
|
- For patients with early
onset seizures: 6-17%
- Overall: low
|
4-5 Months
|
|
|
|
Disease/Test Name
|
Gene Name & Method
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
Autism Panel 2- Male
(Male with Autism Spectrum Disorder and No Macrocephaly)
|
CGH Array
(All Known Chromosomal Regions Associated With Autism Spectrum Disorders)
|
≥6-15%
|
3-4 Months
|
|
|
CDKL5 Whole Gene Analysis
|
- For patients with early
onset seizures: 6-17%
- Overall: low
|
4-5 Months
|
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Autism Panel 1- Female
- Autism Panel 2- Female
- Autism Panel 1- Male
- Autism Panel 2- Male
|
x
|
x
|
PTEN
|
601728
|
10q23.31
|
Phosphatase and Tensin Homolog
|
|
DNA
|
CDS
|
Exon
|
|
102.94 kb
|
1212 bp
|
9
|
|
MECP2
|
300005
|
Xq28
|
Methyl CpG Binding Protein 2
|
|
DNA
|
CDS
|
Exon
|
|
75.86 kb
|
1461 bp
|
4
|
|
CDKL5
|
300203
|
Xp22.13
|
Cyclin Dependent Kinase Like 5
|
|
DNA
|
CDS
|
Exon
|
|
227.99 kb
|
3093 bp
|
21
|
|
|
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.
|
|
| |
| |
|
|
آخر تحديث يوم الخميس, 21 يوليوز/تموز 2011 18:07 |
