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)

A2ML1 ACTB ACTG1 BRAF CABIN1 CBL HRAS KRAS LZTR1 MAP2K1 MAP2K2 NF1 NF2 NRAS NSUN2 PPP1CB PTPN11 RAF1 RASA2 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

Disease Group

Cardiovascular disorders Dysmorphology Craniosynostosis and Craniofacial Disorders

MIM

163950 151100 609942 615278 610733 611553 611554 613224 613706 115150 613707 615355 615279 615280 218040 607721 613563 611431 616564 601321 601247

Methodology

Billing

CPT Code(s)
81479 x 1, 81442 x 1

Ordering

Test Code
5081

Additional Test Codes
5079 —Next Generation Sequencing Only, 5080 — Deletion / Duplication Only

Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml
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

Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.

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