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Genetic testing
Treatment
Transthyretin amyloid cardiomyopathy
Test code: TTR-1TTR gene sequencing for tafamidis distribution in transthyretin amyloid cardiomyopathy (ATTR-CM).
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
Amyotrophic lateral sclerosis (ALS)
Test code: ALS-SNGSMost common motor neuron diseases (ALS). Analysis of the coding sequences of the FUS, SOD1 and TARDBP genes, associated with the most common types of congenital amyotrophic lateral sclerosis (after the exclusion of the (GGGGCC) repeat expansion in the C9orf72 gene -> test code ALS-1).
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
APOE haplotypes
Test code: APOE-4Identification of the ApoE2, ApoE3, ApoE4 halpotypes to assess the risk of lecanemab administration in Alzheimer's Disease.
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
Spinal Muscular Atrophy
Test code: SMA-2Identification of the exon 7 and 8 deletion in the SMN1 gene - carrier testing and SMN1/SMN2 copy number assessment.
We perform genetic testing from:
venous blood collected
Assessment of the P450 2C19 cytochrome activity
Test code: CYP2C19-1Identification of CYP2C19*2, *3, *6 and *17 haplotypes to assess cytochrome P450 2C19 activity - qualification for treatment with mavacamten (CAMZYOS) and dosing of drugs such as clopidogrel, and citalopram.
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
Candersartan, Irbesartan, Losartan, Warfarin - activity of the P450 2C9 cytochrome
Test code: CYP2C9-1Identification of the CYP2C9*2 and *3 variants
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
Porphyria
Test code: PRF-NGSSequence analysis of the coding region of the PPOX, CPOX, HMBS and ALAD genes
We perform genetic testing from:
saliva (spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected