Genetic testing

Inborn metabolic disorders

Inborn metabolic disorders
Test code: IMD-NGS

NGS analysis of the coding sequences of over 600 genes, performed on a basis of 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
Hyperammonaemia
Test code: UREA-NGS

NGS analysis of the coding sequence of 34 genes related to hyperammonemia (including urea cycle disorders): ACADM, ACADS, ACADVL, ALDH18A1, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HLCS, HMGCL, IVD, MCCC1, MCCC2, MMAA, MMAB, MUT, NAGS, OTC, PCCA, PCCB, SLC22A5, SLC25A13 and SLC25A20.

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
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