Test Code	Test Name	Gene / Region Examined	Analysis Method	Sample Type	Sample Amount	Delivery Time
330134	Real Time PCR Analysis - t(9;22) (BCR/ABL)		Real-time PCR (IPSOGEN)	Bone marrow (EDTA)	2-3 ml	10
3300157	Real time PCR inv(16)t(16;16)-CBFB Analysis		Real-time PCR (IPSOGEN)	Bone marrow (EDTA)	2-3 ml	10
3300465	RET gene Sequence analysis	RET Exon 10, RET Exon 11, RET Exon 14, RET Exon 16, RET Exon13, RET Exon15	DNA Analysis	Blood (EDTA)	2-3 ml	15
3300255	Retinitis pigmentosa 37	NR2E3 -Exon 1, NR2E3 -Exon 2, NR2E3 -Exon 3, NR2E3 -Exon 4, NR2E3 -Exon 5, NR2E3 -Exon 6, NR2E3 -Exon 7, NR2E3 -Exon 8	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
331941	Rett Syndrome - MLPA Analysis	MECP2 - Deletion/Duplication	MLPA Analysis	AS, CVS, EDTA blood	2-3ml	21
331975	Rett Syndrome - Sequencing Analysis	MECP2 - Exon 2, MECP2 - Exon 3, MECP2 - Exon 4	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331040	Seroid Lipofuccinosis (Neuronal 1)	PPT1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331110	Seroid Lipofuccinosis (Neuronal 10)	CTSD - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331060	Seroid Lipofuccinosis (Neuronal 2)	TPP1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331070	Seroid Lipofuccinosis (Neuronal 5)	CLN5 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331080	Seroid Lipofuccinosis (Neuronal 6)	CLN6 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331090	Seroid Lipofuccinosis (Neuronal 7)	MFSD8 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331100	Seroid Lipofuccinosis (Neuronal 8)	CLN8 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300257	Shashi-Pena Syndrome	ASXL2 - Exon 1, ASXL2 - Exon 10, ASXL2 - Exon 11, ASXL2 - Exon 12, ASXL2 - Exon 13, ASXL2 - Exon 2, ASXL2 - Exon 3, ASXL2 - Exon 4, ASXL2 - Exon 5, ASXL2 - Exon 6, ASXL2 - Exon 7, ASXL2 - Exon 8, ASXL2 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332042	Shwachman-Diamond Syndrome	SBDS - Exon 1, SBDS - Exon 2, SBDS - Exon 3, SBDS - Exon 4, SBDS - Exon 5	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
330063	Sialidoz, tip 1-2 (Nörominidaz)	NEU1 - Exon 1, NEU1 - Exon 2, NEU1 - Exon 3, NEU1 - Exon 4, NEU1 - Exon 5, NEU1 - Exon 6	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
330055	Sickle cell anemia	HBB - Targeted Analysis	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
53331180	Smith-Lemli-Opitz Syndrome (SLOS)	DHCR7 - Exon 3, DHCR7 - Exon 4, DHCR7 - Exon 5, DHCR7 - Exon 6, DHCR7 - Exon 7, DHCR7 - Exon 8, DHCR7 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3332009	Sneddon's syndrome / Vasculitis	ADA2 - Exon 10, ADA2 - Exon 2, ADA2 - Exon 3, ADA2 - Exon 4, ADA2 - Exon 5, ADA2 - Exon 6, ADA2 - Exon 7, ADA2 - Exon 8, ADA2 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
331183	Spastic paraplegia 2, X-linked	PLP1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40

"The essence of evolutionary biology is that, just as our genetic material guides us, we also have the potential to guide it."