Genetic testing

Cardiomyopathy

Transthyretin amyloid cardiomyopathy
Test code: TTR-1

TTR gene sequencing for tafamidis distribution in transthyretin amyloid cardiomyopathy (ATTR-CM).

Turnaround time: up to 4 weeks

Price:  890.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Cardiomyopathy (hypertrophic and dilated)
Test code: KP-ACMG-NGS

NGS analysis of  coding regions of 38 genes, related to sudden cardiac death (SCD) and other cardio-vascular events acc to ACMG v3.3:  ACTA2, ACTC1, BAG3, CALM1, CALM2, CALM3, CASQ2, COL3A1, DES, DSC2, DSG2, DSP, FBN1, FLNC, KCNH2, KCNQ1, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR

Turnaround time: up to 8 weeks

Price:  2800.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected
Cardiomyopathy (hypertrophic and dilated)
Test code: KP-NGS

Panel of 80 genes known to be associated with hypertrophic, dilated and left ventricular non-compaction, based on the Whole-Exome Sequencing (WES).

Turnaround time: up to 14 weeks

Price:  3800.00 zł
Dodaj do koszyka

We perform genetic testing from:

Ikona opcji  saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
Ikona opcji  venous blood collected

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle.
We distinguish mainly between dilated cardiomyopathy, the most common primary heart muscle disease, and hypertrophic cardiomyopathy, which is characterised by hypertrophy of the heart muscle with asymmetric thickening of the interventricular septum and reduced left ventricular cavity.

There are many risk factors that increase the chance of developing dilated cardiomyopathy, but genetic factors are the most important. More than 40 genes are responsible for the diverse manifestations of non-syndromic dilated cardiomyopathy.
The phenotypic variation in hypertrophic cardiomyopathy is also explained by the involvement of different mutations in the pathogenesis of this disease, with 29 genes now known to be associated with this condition.
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