Prenatal diagnosis

Prenatal diagnosis of chromosomal abnormalities (13,18,21, X and Y chromosome)

Prenatal diagnosis of monogenic disease with a known genetics defect

Cancer

Neuroblastoma (determination of deletions / duplications in 2p24.1/MYCN, NBAS (NAG), DDX1 i ALK genes, 2q3/CASP8, 17q13/TP53)

Pharmacogenetics

Determination of polymorphisms in CYP2D6 gene

Mental retardation and / or disabilities

Fragile x syndrome

Rett syndrome

Detection of microdeletion syndromes (1p36del sy; 2p16; 3q29; 9q22.3; 15q24; 17q21; 22q13/Phelan-McDermid; Cri du Chat syndrome 5p15; DiGeorge syndrome 22q11; Langer-Giedon syndrome 8q; Miller-Dieker syndrome 17p; NF1 microdel. syndrome Prader-Willi/Angelman; MECP2/ Xq28; Rubinstein-Tayubi syndrome, Smith-MKagenis syndrome, Sotos Sy 5q35.3, Wagr syndrome, Williams syndrome, Wolf-Hirshorn 4p16.3; 1q21.1 TAR syndrome; 1q21.1 other than TAR; 3q29; 7q36.1 CNTNAP2 gene; 12p11.23 implicated in schizophrenia; 15q13; 15q24.1 PML gene; 16p11; 17q12; 18q21.2 TCF4 gene; 20p12.2 PAK7 gene)

Detection of deletions / duplications in subtelomeric regions

Genetic tests on male infertility

Male infertility (Y-micro deletions)

Analysis of risk factors for neusteshni pregnancies

Determination of chromosomal aneuploidies in aborted fetus

Molecular analysis of mutations in six thrombophilic genes (fV Leiden G1691A; fII G20210A; fXIII V34L; PAI-I-675 5G/4G; fG-b-455G/A; MTHFR C677T)

Conditions associated with sexual development

Determination of chromosomal aneuploidies with fluorescent PCR analysis

Identifying the gene defect in the androgen receptor (AR) gene

Molecular characterization of the SRY gene

Campomelic dysplasia (SOX9)

Panel genes for determining the sex- inversion (SOX9, NRSA1, WNT4, NROB1, SRY, CYP21A1 и CYP21A1P)

Hereditary deafness

Genetics defect in GJB2 and mDNA