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NZOZ genomed
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Genetic testing
> Inborn metabolic disorders
Badania genetyczne
Badania genetyczne
Waluta
Inborn metabolic disorders
Inborn metabolic disorders
Test code: IMD-NGSNGS analysis of the coding sequences of over 600 genes, performed on a basis of Whole Exome Sequencing (WES).
We perform genetic testing from:


Inborn metabolic disorders
Test code: UREA-NGSNGS 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.
We perform genetic testing from:

