Eastern Biotech is offering all kinds of Genetic Testing Services.

5. Paternity Testing

6. Forensic testing

8. Rearrangements in Cancer Cells Chromosomal breaks produce fusion genes These cause leukemias and lymphomas D iagnosis determines treatment and prognosis

26. Easy tests 1 exon HBB Beta thalassemia 1 common mutation SMN1 Spinal muscular atrophy 1 common mutation HBB Sickle cell anemia 1 common mutation PMP22 Hereditary neuropathy (HNPP) 2 common mutations HFE Hemochromatosis type1 1 common mutation GJB2 Deafness Common mutations CFTR Cystic fibrosis 1 common mutation PMP22 Charcot-Marie-Tooth Type 1A 2 common mutations PI Alpha 1 antitrypsin Repeat SCA1,2, 3, 6, 7, 8,10, 12,17 Spinocerebellar ataxia Repeat DMPK Myotonic dystrophy type 1 Repeat AR Kennedy Repeat HD Huntington type 1 Repeat DRPLA Haw River Repeat FRDA Friedreich ataxia Repeat FMR2 FRAXE Repeat FMR1 Fragile X Mutation Gene Disease

27. Difficult tests Private MSH6 Private MSH2 Private MLH1 Colon cancer Private BRCA2 Private BRCA1 Breast cancer Mutation Gene Disease

35. Common genetic diseases Easy / cheap Only 1 exon HBB variable variable Beta Thalassemia Easy / cheap Only 1 mutation SMN1 1 / 10.000 1 / 10.000 SMA Easy / cheap Only 1 mutation FMR1 1 / 5.000 1 / 5.000 Fragile X syndrome Easy / cheap 1 common mutation GJB2 1 / 4.000 1 / 1.500 Prelingual deafness Easy / cheap Common mutations CFTR 1 / 2.500 1 / 2.500 Cystic fibrosis Complicated / expensive Mutations in 19 exons Mutations in 16 exons Mutations in 10 exons Mutations in 15 exons Mutations in 16 exons MLH1 MSH2 MSH6 APC MUTYH 1 / 1.000 1 / 25 Colorectal Cancer Complicated / expensive Mutations in 16 exons LDLR 1 / 750 1 / 500 Hypercholesterolemia Complicated / expensive Mutations in 23 exons Mutations in 28 exons BRCA1 BRCA2 1 / 500 1 / 20 Breast Cancer Easy / cheap 2 common mutations HFE 1 / 400 1 / 600 Hemochromatosis Conclusion Mutations Genes Mutation Frequency Disease