Congenital Heart

Congenital Heart

Congenital Heart diseases panel [114 genes]: The use of this panel should be considered:

  • In case of isolated congenital heart disease.
  • In case of syndromic congenital heart disease related to genes included in the panel.
  • In case other causes for congenital heart disease (e.g. presence of chromosomal abnormalities) have been ruled out through another method, such as SNP arrays.
Informed consent
ACTA2ACTC1ACVR1ACVR2BACVRL1ANKRD1B3GAT3BMPR2BRAFCBL
CFC1CITED2COL1A1COL1A2COL3A1COL5A1COL5A2CREBBPCRELD1CHD7
DTNAEFEMP2EHMT1ELNENGEP300EVCEYA4FBN1FBN2
FLNAFOXC1FOXF1FOXH1FOXP1GAAGATA4GATA5GATA6GDF1
GJA1GJA5HAND2HRASIRX4ISL1JAG1KANSL1KCNA5KCNJ8
KCNK3KMT2DKRASLEFTY2MAP2K1/MEK1MAP2K2MCTP2MED12MED13LMFAP5
MIB1MYBPC3MYH11MYH6MYH7MYLKNEXNNF1NKX2-5NKX2-6
NODALNOTCH1NOTCH2NOTCH3PHP4NRASPDGFRAPITX2PLOD1PRKG1
PTPN11RAF1RASA1RASA2RIT1SALL4SHOC2SKISLC2A10SMAD1
SMAD3SMAD4SMAD6SMAD9SOS1SOS2SPRED1TAB2TBX1TBX20
TBX5TDGF1TFAP2BTGFB2TGFB3TGFBR1TGFBR2TNNI3TNNI3KTOPBP1
UPF3BZDHHC9ZFPM2ZIC3

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

The use of this panel should be considered:

  • In case of isolated congenital heart disease.
  • In case of syndromic congenital heart disease related to genes included in the panel.
  • In case other causes for congenital heart disease (e.g. presence of chromosomal abnormalities) have been ruled out through another method, such as SNP arrays.
Informed consent
ACTA2ACTC1ACVR1ACVR2B
ACVRL1ANKRD1B3GAT3BMPR2
BRAFCBLCFC1CITED2
COL1A1COL1A2COL3A1COL5A1
COL5A2CREBBPCRELD1CHD7
DTNAEFEMP2EHMT1ELN
ENGEP300EVCEYA4
FBN1FBN2FLNAFOXC1
FOXF1FOXH1FOXP1GAA
GATA4GATA5GATA6GDF1
GJA1GJA5HAND2HRAS
IRX4ISL1JAG1KANSL1
KCNA5KCNJ8KCNK3KMT2D
KRASLEFTY2MAP2K1/MEK1MAP2K2
MCTP2MED12MED13LMFAP5
MIB1MYBPC3MYH11MYH6
MYH7MYLKNEXNNF1
NKX2-5NKX2-6NODALNOTCH1
NOTCH2NOTCH3PHP4NRAS
PDGFRAPITX2PLOD1PRKG1
PTPN11RAF1RASA1RASA2
RIT1SALL4SHOC2SKI
SLC2A10SMAD1SMAD3SMAD4
SMAD6SMAD9SOS1SOS2
SPRED1TAB2TBX1TBX20
TBX5TDGF1TFAP2BTGFB2
TGFB3TGFBR1TGFBR2TNNI3
TNNI3KTOPBP1UPF3BZDHHC9
ZFPM2ZIC3

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.
  • Individuals suspected or clinically diagnosed with a syndromic or non-syndromic (i.e. isolated) congenital heart disease. Upon familial history of congenital heart disease with a risk of recurrence, it is always necessary to try to determine its molecular etiology.
  • Familial study: relatives of patients with a syndromic or non-syndromic congenital heart disease in which a causal mutation has been previously identified.

It is recommended to rule out chromosomal abnormalities (karyotype, CGH-array, SNP arrays) in order to improve the yield of the test, especially when other malformations are present.

The NGS panel allows identifying mutations in some of the genes previously associated with the development of syndromic or non-syndromic congenital heart diseases.

Case analysis using whole-exome sequencing can be considered in cases where there is suspicion of a genetic cause for a congenital heart disease without an identified molecular cause, but the individual yield over our NGS panels is low.

Diagnostic approach:

In the case of a congenital heart disease associated with other malformations, it is possible that the cause is a genetic syndrome. For this reason, karyotype study is indicated upon suspicion of chromosomal abnormalities.

SNP arrays analysis can detect copy number variations (CNVs) in the whole genetic material, allowing to confirm or rule out microdeletion or microduplication syndromes, such as deletion 22q11 (velocardiofacial syndrome), deletion 7q11 (Williams syndrome), etc.

NGS panel (massive sequencing) allows for the study of 114 genes related to congenital heart diseases, either for some monogenic syndromes such as Holt-Oram syndrome (TBX5), Alagille syndrome (JAG1 and NOTCH2), CHARGE syndrome (CDH7), Rubinstein-Taybi syndrome (CREBBP and EP300), RASopathies, Marfan syndrome (FBN1), among others; as well as mutations in genes related to non-syndromic or isolated congenital heart diseases.

Health in Code also offers the possibility to perform whole exome sequencing studies in cases where there is suspicion of a genetic cause for a congenital heart disease without an identified molecular cause, but its additional yield over our NGS panels is low.

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para mayor información.

ACEPTAR
Aviso de cookies