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
TAT: 6-9 weeks
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.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of selected regions

Lab method: Chromosomal Microarray Analysis
TAT: 2-4 weeks
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.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Parental testing in case of a causative mutation has been identified in an affected  individual
  3. Genetic counseling
  4. Prenatal diagnosis