Sequencing Kits

 

Disease/Panel Name Gene Name Targeted Region Method UBB Record
Beta –Thalassemia Whole Gene Sequencing HBB Exon 1-2-3, Intron 1-2-3, Sequencing Yes
5’UTR, 3’UTR, Poly A
FMF  Whole Gene Sequencing MEFV Exon 1-10 arası Sequencing
CFTR Whole Gene Sequencing CFTR Exon 1-24 arası Sequencing Yes
EGFR EGFR Exon 18-19-20-21 Sequencing Yes
PDGFRA PDGFRA Exon 12,14,18, 19 Sequencing
CEBPA CEBPA Exon 1 Sequencing
Shwachman – Diamond Syndrome SBDS Whole Gene Sequencing
Glucose-6-phosphate dehydrogenase deficiency G6PD Whole Gene Sequencing
Smith Lemli Opitz Syndrome DHCR7 Whole Gene Sequencing
Adenosine Deaminase Deficiency ADA Whole Gene Sequencing
Crisponi Syndrome CRLF1 Whole Gene Sequencing
Hypoparathyroidism -deafness-Renal dysplasia syndrome – HDR GATA3 Whole Gene Sequencing
Hemophilia B F9 Whole Gene Sequencing
Niemann-Pick Syndrome SMPD1 Whole Gene Sequencing
Osteopetrozis CLCN7 Whole Gene Sequencing
Osteopetrozis TCIRG Whole Gene Sequencing
Osteopetrozis OSTM1 Whole Gene Sequencing
5α-reductase type 2 deficiency SRD5A2 Whole Gene Sequencing
Lymphoproliferative Syndrome SH2D1A Whole Gene Sequencing
Griscelli syndrome, type 2 RAB27A Whole Gene Sequencing
Mucopolysaccharidosis, type IVA GALNS Whole Gene Sequencing
Thoracic aortic aneurysm with aortic dissection 4 ACTA2 Whole Gene Sequencing
 Phenylketonuria PKU Whole Gene Sequencing
Pena Shokeir Syndrome RAPSN Whole Gene Sequencing
Pena Shokeir Syndrome DOK7 Whole Gene Sequencing
 Congenital Myasthenic Syndrome CHRNE Exon 11-12 Sequencing
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