Noonan spectrum disorder NGS panel
Number of Panel Genes25
The Noonan spectrum disorders are a clinically overlapping group of developmental disorders caused by mutations in genes involved in the RAS-MAPK signaling pathway (RASopathies). Clinical features of these disorders include short stature, cardiovascular defects, developmental delays, characteristic facial features, cutaneous findings, and an increased risk for specific types of cancer. The disorders included on this panel are Noonan syndrome, LEOPARD syndrome, Cardio-facial
The Noonan spectrum disorders are a clinically overlapping group of developmental disorders caused by mutations in genes involved in the RAS-MAPK signaling pathway (RASopathies). Clinical features of these disorders include short stature, cardiovascular defects, developmental delays, characteristic facial features, cutaneous findings, and an increased risk for specific types of cancer. The disorders included on this panel are Noonan syndrome, LEOPARD syndrome, Cardio-facial-cutaneous syndrome, Costello syndrome, Noonan-like syndrome with loose anagen hair, NF1 related Noonan syndrome, Noonan-like syndrome with or without juvenile myelomonocytic leukemia, and Legius syndrome. Other RASopathies or phenotype-related diseases, such as hereditary gingival neurofibromatosis, neurofibromatosis 2, and Baraitser-Winter syndrome, are also included in this panel. All of these disorders are reported to be inherited in an autosomal dominant manner, although most cases are caused by de novo mutations.
The Noonan spectrum disorder NGS panel consists of twenty-five genes: A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2 and SPRED1.
Copy number variation (CNV) analysis of the Noonan spectrum disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.
Noonan spectrum disorder NGS panel
| Gene | Disorder | MIM |
| A2ML1 | Noonan syndrome, A2MN1 related | - |
| ACTB | Baraitser-Winter syndrome 1 (BRWS1) | 243310 |
| ACTG1 | Baraitser-Winter syndrome 2 (BRWS2) | 614583 |
| BRAF | Noonan syndrome 7 (NS7) Cardiofaciocutaneous syndrome (CFC1) LEOPARD syndrome 3 (LPRD3) |
613706 115150 613707 |
| CABIN1 | Neurofibromatosis, CABIN1 related Schwannomatosis, CABIN1 related |
- - |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) Leukemia, juvenile myelomonocytic (JMML) |
613563 607785 |
| HRAS | Costello syndrome (CSTLO) | 218040 |
| KRAS | Noonan syndrome 3 (NS3) Cardiofaciocutaneous syndrome 2 (CFC2) RAS-associated autoimmune leukoproliferative disorder (RALD) |
609942 615278 614470 |
| LZTR1 | Noonan syndrome 10 (NS10) | 616564 |
| MAP2K1 | Cardiofaciocutaneous syndrome 3 (CFC3) | 615279 |
| MAP2K2 | Cardiofaciocutaneous syndrome 4 (CFC4) | 615280 |
| NF1 | Neurofibromatosis-Noonan syndrome (NFNS) Neurofibromatosis, type 1 (NF1) Neurofibromatosis, familial spinal (FSNF) Leukemia, juvenile myelomonocytic (JMML) |
601321 162200 162210 607785 |
| NF2 | Neurofibromatosis, type 2 (NF2) Schwannomatosis (SWNTS1) |
101000 162091 |
| NRAS | Noonan syndrome 6 (NS6) | 613224 |
| NSUN2 | Noonan syndrome-like disorder, NSUN2 related | - |
| PPP1CB | Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) | 617506 |
| PTPN11 | Noonan syndrome 1 (NS1) LEOPARD syndrome 1 (LPRD1) |
163950 151100 |
| RAF1 | Noonan syndrome 5 (NS5) LEOPARD syndrome 2 (LPRD2) |
611553 611554 |
| RASA2 | Noonan syndrome, RASA2 related | - |
| RIT1 | Noonan syndrome 8 (NS8) | 615355 |
| RRAS | Noonan syndrome-like disorder, RRAS related | - |
| SHOC2 | Noonan syndrome-like disorder with loose anagen hair (NSLH) | 607721 |
| SOS1 | Noonan syndrome 4 (NS4) Fibromatosis, gingival, 1 (GINGF1) |
610733 135300 |
| SOS2 | Noonan syndrome 9 (NS9) | 601247 |
| SPRED1 | Legius syndrome | 611431 |
Gene(s)
Disease Group
MIM
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
