Genetic examinations list
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Predictive testing of known familial gene mutation from CarrierTest
Testing for carriage of familial pathogenic mutations detected during testing in the CarrierTest panel NGS test.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekPGT-M direct embryo sequencing
Testing for the presence of a known mutation in an embryo originating from one parent using (Sanger) sequencing of a specific region. Can only be done in conjunction with the PGT-M karyomapping method.
Material:
Trophectoderm, Amplified DNA from the trophectodermTurnover Time:
4 weeksSTATIM
2 weeksPredictive testing of familial mutation
Predictive testing of known familial mutation using Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysTesting for the most common NBN (NBS1) gene mutation – Nijmegen breakage syndrome, primary microcephaly
Testing for the most common c.511A>G (p.Ile171Val), c.643C>T (p.Arg215Trp) and c.657_661delACAAA (p.Lys219Asnfs*16) mutations in the NBN gene (NBS1) responsible for Nijmegen breakage syndrome by Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysCascade testing for GJB2 gene mutation (for Connexin 26) – early non-syndromic AR deafness
Testing for GJB2 gene mutations (gap junction beta 2) responsible for hereditary autosomal recessive disease, early non-syndromic disorder/hearing loss and deafness, also referred to as DFNB1.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekStereocilin gene fragmentation analysis
Targeted testing for STRC gene deletion by QF-PCR (Stereocilin gene) responsible for hearing impairment DFNB16.