Cardiology

Hypertrophic cardiomyopathy (extended panel) [140 genes]

Ref.: S-201906390

Hypertrophic cardiomyopathy (basic panel) [21 genes]

Ref.: S-201906389

Dilated cardiomyopathy – Non-compaction cardiomyopathy [146 genes]

Ref.: S-201906391

Arrhythmogenic cardiomyopathy [31 genes]

Ref.: S-201906392

Restrictive cardiomyopathy [22 genes]

Ref.: S-201906393

Rare diseases with cardiac affectation

RASopathies (Noonan, LEOPARD, Costello) [27 genes]

Ref.: S-201906395

Familial amyloidosis. Sequencing of the TTR gene [1 gene]

Ref.: S-201500141

Fabry disease. Sequencing of the GLA gene [1 gene]

Ref.: S-201601169

Nuclear mitochondrial genes [400 genes]

Ref.: S-202008652

Mitochondrial genome sequencing [37 genes]

Ref.: S-201805389

TAT (turnaround time): 35 days

Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.

TAT (turnaround time): 2 weeks

Sanger sequencing studies on carriers of variants that have been previously described in the family.

TAT (turnaround time): 35 days

Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).