Test Code	Test Name	Gene / Region Examined	Analysis Method	Sample Type	Sample Amount	Delivery Time
5000101	Osteogenesis Imperfecta Panel	ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1	Next Generation Sequence	EDTA blood	2-3 ml	45
3300569	Osteogenesis imperfecta, type VII	CRTAP - Exon 1, CRTAP - Exon 2, CRTAP - Exon 3, CRTAP - Exon 4, CRTAP - Exon 5, CRTAP - Exon 6, CRTAP - Exon 7	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332041	Osteopetrosis Disease	CLCN7 - Exon 1, CLCN7 - Exon 10, CLCN7 - Exon 11, CLCN7 - Exon 12, CLCN7 - Exon 13, CLCN7 - Exon 14, CLCN7 - Exon 15, CLCN7 - Exon 16, CLCN7 - Exon 17, CLCN7 - Exon 18, CLCN7 - Exon 19, CLCN7 - Exon 2, CLCN7 - Exon 20, CLCN7 - Exon 21, CLCN7 - Exon 3, CLCN7 - Exon 4, CLCN7 - Exon 5, CLCN7 - Exon 6, CLCN7 - Exon 7, CLCN7 - Exon 8, CLCN7 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332047	Osteopetrosis Disease	TCIRG1 - Exon 10, TCIRG1 - Exon 11, TCIRG1 - Exon 12, TCIRG1 - Exon 13, TCIRG1 - Exon 14, TCIRG1 - Exon 15, TCIRG1 - Exon 16, TCIRG1 - Exon 17, TCIRG1 - Exon 18, TCIRG1 - Exon 19, TCIRG1 - Exon 2, TCIRG1 - Exon 20, TCIRG1 - Exon 3, TCIRG1 - Exon 4, TCIRG1 - Exon 5, TCIRG1 - Exon 6, TCIRG1 - Exon 7, TCIRG1 - Exon 8, TCIRG1 - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332058	Osteopetrosis Disease Type 5	OSTM1 - Exon 1, OSTM1 - Exon 2, OSTM1 - Exon 3, OSTM1 - Exon 4, OSTM1 - Exon 5, OSTM1 - Exon 6	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
331962	P16 (CDKN2A) gene Sequence analysis (Whole Gene)		DNA Analysis	FFPE, Fresh Tumor Tissue		15
330119	P53 gene Sequence analysis (Whole Gene)	TP53 - Exon 10, TP53 - Exon 11, TP53 - Exon 2, TP53 - Exon 3, TP53 - Exon 4, TP53 - Exon 5, TP53 - Exon 6, TP53 - Exon 7, TP53 - Exon 8, TP53 - Exon 9	DNA Analysis	Blood (EDTA) Fresh Tumor Tissue, FFPE	2-3 ml	15
331991	PAI-1 Analysis	PAI - 4G/5G	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
330120	PDGFRA gene Sequence analysis	PDGFRA Exon 12, PDGFRA Exon 18, PDGFRA Exon 19	DNA Analysis	Fresh Tumor Tissue, Paraffin block		15
3319994	PDL1 IHC		Immunohistochemistry (IHC)	FFPE, Fresh Tumor Tissue		7
53331890	Peutz Jeghers Syndrome	STK11 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332053	Phenylketonuria Disease	PAH - Exon 1, PAH - Exon 10, PAH - Exon 11, PAH - Exon 12, PAH - Exon 13, PAH - Exon 2, PAH - Exon 3, PAH - Exon 4, PAH - Exon 5, PAH - Exon 6, PAH - Exon 7, PAH - Exon 8, PAH - Exon 9	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332013	PIK3CA gene Sequence analysis	PIK3CA Exon 20, PIK3CA Exon 9	DNA Analysis	FFPE, Fresh Tumor Tissue		10
3300516	Platelet Antigen HPA1	HPA1 - a/b	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
3332059	Pregnancy Loss		Next Generation Sequence	Special Tube	10 ml	7-10*
53331020	Progressive Myoclinical Epilepsy	CERS1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331050	Progressive Myoclinical Epilepsy	KCTD7 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331310	Progressive Myoclinical Epilepsy	GOSR2 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331410	Progressive Myoclinical Epilepsy	KCNC1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
331997	PTEN gene Sequence analysis (Whole Gene)	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	DNA Analysis	FFPE, Fresh Tumor Tissue		21

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