Published 19/07/2019
We now offer an NGS panel for Hereditary Hemorrhagic Telangiectasia. Additionally, Noonan Syndrome test has been upgraded to Noonan Spectrum Disorders/Rasopathies test including several new disease-causing genes. All NGS panels in Asper Cardiogenetics testing menu are covered by CNV analysis based on sequencing data. Visit https://www.asperbio.com/asper-cardiogenetics/ to learn more.
Published 23/03/2017
Noonan Spectrum Disorders/Rasopathies NGS panel
Genes
(full
coding
region): |
A2ML1, ACTB, ACTG1, BRAF, CBL, CHD7, DHCR7, ELN, EPHB4, FGD1, HRAS, JAG1, KAT6B, KDM6A, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NCF1, NF1, NOTCH2, NRAS, PPP1CB, PTPN11, RAF1, RAI1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBX1
List of diseases covered by the panel |
| Lab method: |
NGS panel with CNV analysis |
| Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. |
Deletion/duplication analysis of selected regions
| Lab method: |
Chromosomal Microarray Analysis |
| Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. |
Indications for genetic testing:
- Confirmation of clinical diagnosis
- Parental testing in case of a causative mutation has been identified in an affected individual
- Genetic counseling
- Prenatal diagnosis
