RASopathies

Noonan, LEOPARD, Costello

RASopathies panel [26 genes]: this panel is indicated when there is a suspicion of any RASopathy in the patient, having been specifically designed for this group of symptoms. It includes priority genes, which have been clearly associated with these diseases, and secondary genes, which have been sporadically associated with them.

Informed consent
BRAFHRASKRASLZTR1NF1PTPN11RAF1RIT1SOS1SOS2
A2ML1ALPK3CBLMAP2K1MAP2K2NRASPPP1CBRASA2RRASSHOC2
SPRED1KAT6B*MAP3K8*RASA1*SPRY1*SYNGAP1*

Hypertrophic cardiomyopathy full panel [118 genes]: it includes both the main sarcomeric genes and all phenocopies of HCM, as well as secondary and candidate genes gathered from a systematic literature review. It includes all the genes that are included in the RASopathies panel as well.

It is indicated when there is a clear HCM phenotype in the patient and, although there is a suspicion of RASopathy, this phenotype is not clear; severe phenotypes or phenotypes associated with syndromes and other rare genetic diseases are detected; or an exhaustive genetic study of this pathology is intended, since this is the most complete panel for HCM in the market.

Cardiomyopathies panel [204 genes]: it includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

Study requisition form
Informed consent

Cardiovascular diseases global panel [405 genes]: this panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent

This panel is indicated when there is a suspicion of any RASopathy in the patient, having been specifically designed for this group of symptoms. It includes priority genes, which have been clearly associated with these diseases, and secondary genes, which have been sporadically associated with them.

Informed consent
BRAFHRASKRASLZTR1
NF1PTPN11RAF1RIT1
SOS1SOS2A2ML1ALPK3
CBLMAP2K1MAP2K2NRAS
PPP1CBRASA2RRASSHOC2
SPRED1KAT6B*MAP3K8*RASA1*
SPRY1*SYNGAP1*

It includes both the main sarcomeric genes and all phenocopies of HCM, as well as secondary and candidate genes gathered from a systematic literature review. It includes all the genes that are included in the RASopathies panel as well.

It is indicated when there is a clear HCM phenotype in the patient and, although there is a suspicion of RASopathy, this phenotype is not clear; severe phenotypes or phenotypes associated with syndromes and other rare genetic diseases are detected; or an exhaustive genetic study of this pathology is intended, since this is the most complete panel for HCM in the market.

Study requisition form
Informed consent

It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

Study requisition form
Informed consent

This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.
  • Subjects under suspicion or clinical diagnosis of Noonan, LEOPARD, Costello, Legius or cardiofaciocutaneous syndrome. There is frequent clinical overlapping among these syndromes (these patients share a variable degree of intellectual disability, cardiac anomalies, facial dysmorphism, skin anomalies and predisposition to develop cancer); therefore the genetic study would facilitate differential diagnosis.
  • All these syndromes share an autosomal dominant pattern.
  • Familial study: A search for the mutation previously identified in a proband (relatives of patients with Noonan, LEOPARD, Costello, Legius or cardiofaciocutaneous syndrome, in which a mutation has been previously identified.

Noonan Syndrome

  1. Judith E Allanson and Amy E Roberts. 2011 August 4. GeneReviews.
  2. Van der Burgt I. Orphanet J Rare Dis. 2008 June.

Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome)
Bruce D Gelb and Marco Tartaglia. 2015 May 14. GeneReviews.

Costello Syndrome
Karen W Gripp and Angela E Lin. 2012 January 12. GeneReviews.

Legius Syndrome (Neurofibromatosis Type 1-Like Syndrome)
David Stevenson, David Viskochil and Rong Mao. 2015 January 15.

Cardiofaciocutaneous Syndrome
Katherine A Rauen. 2012 September 6. GeneReviews.

The probability of identifying a causative mutation when a patient has been diagnosed with one of these syndromes is high, over 70% in all cases. It can range from 70%-80% for one mutation or variant relevant for Noonan syndrome, to 88%-98% in the case of Legius syndrome.

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