Genetic examinations list

Filter by name:
  • All
  • A
  • B
  • C
  • D
  • E
  • F
  • G
  • H
  • I
  • J
  • K
  • L
  • M
  • N
  • O
  • P
  • Q
  • R
  • S
  • T
  • U
  • V
  • W
  • X
  • Y
  • Z
  • 0
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 7
  • 8
  • 9

Clinical foetal exome (WES) (proband)

NGS analysis of exome (WES) and other clinically relevant regions of the foetal genome; we recommend simultaneously performing exome analysis also in the parents of the foetus – so-called trio analysis.

Material:

Chorionic villi, Amniotic fluid …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, Cultured cells, DNA isolated from cultured cells

Turnover Time:

6 months

STATIM

1 month

Cancer panel CZECANCA

Testing for congenital predisposition to certain tumour types is performed by examination of exome data (WES) by CZECANCA virtual cancer panel of genes.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

Clinical exome (WES)

NGS analysis of exome and other clinically relevant regions of the patient’s genome.
We recommend simultaneously performing exome analysis also in the parents of the foetus – so-called trio analysis. For trio analysis, order following test for parents together with this test: Clinical exome – blood relatives proband.

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:

6 months

STATIM

1 month

Clinical exome (WES) – blood relatives

DNA testing of relatives using exome sequencing method to determine causal variants responsible for patient phenotype (duo/trio analysis).

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:

6 months

STATIM

1 month

Hereditary spastic paraparesis (SPG4 – SPAST gene, SPG31 – REEP1 gene) – familial AD

Testing for familial AD variants of SPAST gene (SPG4) and REEP1 gene (SPG31) using the NGS method.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Cultured cells

Turnover Time:

6 weeks

STATIM

3 weeks