Genetic examinations list

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EXOSC3 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 weeks

STATIM

1 week

MARVELD2 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

Turnover Time:

3 weeks

STATIM

1 week

QF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y

Testing for aneuploidy of chromosomes 13, 18, 21, X and Y by QF-PCR.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Chorionic villi, Amniotic fluid, Cord blood, Conception product, Cultured cells, Isolated DNA from cordocentesis, Isolated DNA from chorionic villi, DNA isolated from the product of conception, Isolated DNA from amniotic fluid

Turnover Time:

1 week

STATIM

2 days