|
Increased Nuchal Translucency Genetic Testing Panel |
|
Disease/Test Name
|
Gene Name & Method
|
Prevalence
|
Detection Rate
|
Turn Around Time
|
Price
|
|
Increased Nuchal Translucency Genetic Testing Panel
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CYP21A2, PTPN11, KRAS, SOS1,
RAF1, MEK1, DHCR7, SMN1 & 22q11.2 Region Mikro-Array Based Mutation Analysis
|
Congenital Adrenal Hyperplasia
|
1:16,000
|
95%
|
5-6 Weeks
|
|
|
Noonan Syndrome
|
1:1,000-1:2,500
|
70%
|
|
Smith-Lemli-Opitz Syndrome
|
1:20,000-1:60,000
|
97%
|
|
Spinal Muscular Atrophy
|
1:4,000-1:6,000
|
95%
|
|
22q11.2 Deletion Syndrome
|
1:7,000-1:100,000
|
95%
|
|
|
Disease Name (Synonym)
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- Congenital Adrenal Hyperplasia
|
211910
|
Autosomal Recessive
|
CYP21A2
|
x
|
6p21.3
|
Cytochrome P450 XXI
|
|
DNA
|
CDS
|
Exon
|
|
3,34 kb
|
1488 bp
|
10
|
|
- Noonan Syndrome
|
|
Autosomal Dominant
|
PTPN11
|
176876
|
12q24.1
|
Tyrosine-Protein Phosphatase Non-Receptor Type 11
|
|
DNA
|
CDS
|
Exon
|
|
91,2 kb
|
1782 bp
|
16
|
|
KRAS (KRAS2)
|
190070
|
12p12.1
|
GTPase KRas
|
|
DNA
|
CDS
|
Exon
|
|
45.67 kb
|
x
|
7
|
|
SOS1
|
182530
|
2p22-p21
|
Son of Sevenless Homolog 1
|
|
DNA
|
CDS
|
Exon
|
|
134,6 kb
|
23
|
4002 bp
|
|
RAF
|
164760
|
3p25
|
RAF Proto-Oncogene Serine/Threonine-Protein Kinase
|
|
DNA
|
CDS
|
Exon
|
|
80,5 kb
|
1947 bp
|
17
|
|
MEK1 (MAP2K1)
|
|
15q22.31
|
Mitogen-Activated Protein Kinase Kinase 1
|
|
DNA
|
CDS
|
Exon
|
|
104.26 kb
|
1182 bp
|
11
|
|
- Smith-Lemli-Opitz Syndrome
|
270400
|
Autosomal Recessive
|
DHCR7
|
602858
|
11q12-q13
|
7-Dehydrocholesterol Reductase
|
|
DNA
|
CDS
|
Exon
|
|
13,94 kb
|
1428 bp
|
9
|
|
- Spinal Muscular Atrophy
|
253300
|
Autosomal Recessive
|
SMN1
|
600354
|
5q12.2-q13.3
|
Survival Motor Neuron Protein
|
|
DNA
|
CDS
|
Exon
|
|
28.07 kb
|
789 bp
|
8
|
|
- 22q11.2 Deletion Syndrome
|
611867
|
Autosomal Dominant
|
x
|
x
|
x
|
x
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
Amniotic Fluid
|
20 ml
|
Injector
|
18-24 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
CVS
|
10 mg
|
Transport Medium
|
|
| Chromosome analysis is required to perform Increased Nuchal Translucency Genetic Testing Panel. Please send parents bloodEDTA with prenatal samples. |
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