Test Code	Test Name	Gene / Region Examined	Analysis Method	Sample Type	Sample Amount	Delivery Time
330042	APOE Analysis	APOE- e2 Allele, APOE- e3 Allele, APOE- e4 Allele	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
53331130	Aromatase Deficiency	CYP19A1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53330830	Aspartylglucosaminuria	AGA - Exon 1, AGA - Exon 2, AGA - Exon 3, AGA - Exon 4, AGA - Exon 5, AGA - Exon 6, AGA - Exon 7, AGA - Exon 8, AGA - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300271	ASXL1 gene Sequence analysis	ASXL1 Exon 12	DNA Analysis	Blood (EDTA), Bone marrow (EDTA)	2-3 ml	10
53331790	Atypical Gaucher	PSAP - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300564	Autoimmune lymphoproliferative syndrome, type II	CASP10 - Exon 10, CASP10 - Exon 2, CASP10 - Exon 3, CASP10 - Exon 4, CASP10 - Exon 5, CASP10 - Exon 6, CASP10 - Exon 7, CASP10 - Exon 8, CASP10 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300648	Beckwith-Wiedemann syndrome (BWS); Russell-Silver syndrome (RSS) MLPA	15q11 - Deletion/Duplication	MLPA Analysis	AS, CVS, EDTA blood	2-3ml	21
332070	Behçet's Disease- HLAB5	HLAB51, HLAB52	RT-PCR	AS, CVS, EDTA blood	2-3ml	10
3300212	Beta Thalassemia - MLPA Analysis	HBB - Deletion/Duplication	MLPA Analysis	AS, CVS, EDTA blood	2-3ml	21
330040	Beta Thalassemia - Sequence analysis	HBB - Exon 1, HBB - Exon 2, HBB - Exon 3	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300518	Beta-Fibrinogen mutation analysis -455G> A	FGB -455G>A	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
53330980	Biotinidase Deficiency	BTD - Exon 1, BTD - Exon 2, BTD - Exon 3, BTD - Exon 4	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300412	Birt-Hogg-Dube syndrome (Autosomal Dominant)	FLCN - Exon 10, FLCN - Exon 11, FLCN - Exon 12, FLCN - Exon 13, FLCN - Exon 14, FLCN - Exon 4, FLCN - Exon 5, FLCN - Exon 6, FLCN - Exon 7, FLCN - Exon 8, FLCN - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332033	Blackfan-Diamond Anemia 1	RPS19 - Exon 2, RPS19 - Exon 3, RPS19 - Exon 4, RPS19 - Exon 5, RPS19 - Exon 6	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300577	Brachydactyly, type A1, C/ Multiple synostoses syndrome 2/ Symphalangism, proximal, 1B	GDF5 - Exon 1, GDF5 - Exon 2	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332095	Braf DNA Analysis - Exon 15 (Codon 600 dahil)		DNA Analysis	FFPE, Fresh Tumor Tissue, Lymphoid tissue		10
331956	BRAF gene Sequence analysis	BRAF - Exon 11, BRAF - Exon 15	DNA Analysis	FFPE, Fresh Tumor Tissue	2-3 ml	10
53331710	Breast cancer, susceptibility to/ Fanconi anemia, complementation group N	PALB2 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331810	Brugada Syndrome	SCN5A - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
330105	C-KIT Sequence analysis	C-KIT Exon 10, C-KIT Exon 11, C-KIT Exon 13, C-KIT Exon 17, C-KIT Exon 8, C-KIT Exon 9	DNA Analysis	FFPE, Fresh Tumor Tissue	2-3 ml	15

"The results suggest a helical structure which must be very closely packed containing probably 2, 3 or 4 coaxial nucleic acid chains per helical unit and having the phosphate groups near the outside."