Test Code	Test Name	Gene / Region Examined	Analysis Method	Sample Type	Sample Amount	Delivery Time
53331270	Congenetal Neutropenia	G6PC3 - Exon 1, G6PC3 - Exon 2, G6PC3 - Exon 3, G6PC3 - Exon 4, G6PC3 - Exon 5	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
333180	Cowden Syndrome, 1 / Lhermitte-Duclos Syndrome	PTEN - Exon 1, PTEN - Exon 2, PTEN - Exon 3, PTEN - Exon 4, PTEN - Exon 5, PTEN - Exon 6, PTEN - Exon 7, PTEN - Exon 8, PTEN - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
333209	Creutzfeldt-Jakob disease/ Gerstmann-Straussler disease	PRNP - Exon 2	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332018	Cystic fibrosis - MLPA Analysis	CFTR - Deletion/Duplication	MLPA Analysis	AS, CVS, EDTA blood	2-3ml	15
330069	Cystic fibrosis -50 Mutations	CFTR - 50 Mutation	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
331926	Cystic fibrosiss - Whole Gene Sequence analysis	CFTR - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331463	Danon Disease	LAMP2 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3332035	Deafness, Autosomal Dominant	MYH9 - Whole Gene	Sequence analysis	EDTA blood	2-3ml	15
330053	Deafness, autosomal recessive 1A (connexin-26)	GJB2 - Exon2	Sequence analysis	AS, CVS, EDTA blood	2-3ml	15
53330850	Diabetes mellitus, type II / Hypoinsulinemic hypoglycemia with hemihypertrophy	AKT2 - Exon 1, AKT2 - Exon 10, AKT2 - Exon 11, AKT2 - Exon 12, AKT2 - Exon 13, AKT2 - Exon 14, AKT2 - Exon 2, AKT2 - Exon 3, AKT2 - Exon 4, AKT2 - Exon 5, AKT2 - Exon 6, AKT2 - Exon 7, AKT2 - Exon 8, AKT2 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300591	Diamond-Blackfan Anemia 10	RPS26 - Exon 1, RPS26 - Exon 2, RPS26 - Exon 3, RPS26 - Exon 4	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300589	Diamond-Blackfan Anemia 6	RPL5 - Exon 1, RPL5 - Exon 2, RPL5 - Exon 3, RPL5 - Exon 4, RPL5 - Exon 5, RPL5 - Exon 6, RPL5 - Exon 7, RPL5 - Exon 8	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300588	Diamond-Blackfan Anemia 7	RPL11 - Exon 1, RPL11 - Exon 2, RPL11 - Exon 3, RPL11 - Exon 4, RPL11 - Exon 5, RPL11 - Exon 6	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300590	Diamond-Blackfan Anemia 9	RPS10 - Exon 1, RPS10 - Exon 2, RPS10 - Exon 3, RPS10 - Exon 4, RPS10 - Exon 5, RPS10 - Exon 6	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300153	Dravet Syndrome	SCN1A - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
330043	Duchenne Muscular Dystrophy (DMD) - MLPA Analysis	DMD - Deletion/Duplication	MLPA Analysis	AS, CVS, EDTA blood	2-3ml	15
3332034	Dyskeratosis Congeneta / Pulmonary Fibrosis	TERT - C228T, TERT - C250T	Sequence analysis	EDTA blood	2-3ml	15
331951	Dystonia, torsion (GAG Deletion)	DYT1 - GAG Deletion	Sequence analysis	AS, CVS, EDTA blood	2-3ml	21
330076	EGFR gene Sequence analysis	EGFR Exon 18, EGFR Exon 19, EGFR Exon 20, EGFR Exon 21	DNA Analysis	FFPE, Fresh Tumor Tissue		15
3300572	Epilepsy, progressive myoclonic 2A (Lafora)	EPM2A - Exon 1, EPM2A - Exon 2, EPM2A - Exon 3, EPM2A - Exon 4	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."