Genetic examinations list
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MTM1 gene testing – X-linked myotubular myopathy congenital
Sequencing of 14 coding exons in the MTM1 gene.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception, Cultured cells
Turnover Time:
3 weeksSTATIM
1 weekEXOSC3 gene testing – pontocerebellar hypoplasia type 1 (PCH1)
Sequencing of 1 coding exon in the EXOSC3 gene for PCH1 (pontocerebellar hypoplasia type 1).
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception
Turnover Time:
3 weeksSTATIM
1 weekMARVELD2 gene testing (exon 4) – early non-syndromic AR deafness
Sequencing the coding region of exon 4 in the MARVELD2 gene, which is a common cause of hearing loss in the Roma ethnic group.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception, DNA isolated from cultured cells