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No. ID Analyzed disease
1 3 Marfan syndrome
2 4 Achondroplasia (ACH)
3 5 Hypochondroplasia (HCH),analysis of thr 6 the most common mutations in the FGFR3 gene
4 6 FraX Syndrome
5 7 Breast /ovarian cancer –genetic predisposition BRCA1 -5382insC.4153delA, C61G
6 8 Angelman Syndrome
7 9 Prader-Willi Syndrome
8 10 Breast, ovarian , colorectal, prostate gland, renal carcinoma, thymus gland carcinoma- susceptibility to -CHEK2 ((1100delC, IVS2+1GA, I157T)
9 11 Rett syndrome (analysis of coding sequence MECP2 gene)
10 12 Hemachromatosis
11 13 Hemachromatosis
12 14 AZF
13 15 Telomery (badanie regionów subtelomerowych) test MLPA
14 16 Colon, lung and ovarian carcinoma –genetic predisposition (3020insC allele)
15 17 Rak - genetyczna predyspozycja, badanie nosicielsta mutacji markerowej CHEK2 (1100delC, IVS2+1GA)
16 18 Microdeletion (the most common arrangements of chromosome microdeletion) MLPA test
17 19 CHEK2 ( genetic predisposition I157T )
18 20 Breast/ovarian/prostate cancer – susceptibility to (NBS1 657del5)
19 21 Melanoma, lung, colon cancer – susceptibility to (CDKN2A (p16)
20 22 Thanatophoric Dysplasia
1 2 3 4 5 6 7 8 9 10 11 12 13 14 »
 
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