Test Code	Test Name	Gene / Region Examined	Analysis Method	Sample Type	Sample Amount	Delivery Time
3300583	Epilepsy, progressive myoclonic 2B (Lafora)	NHLRC1 - Exon 1	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
3300411	Epileptic encephalopathy, early infantile, 1	ARX - Exon 1, ARX - Exon 2, ARX - Exon 3	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
332021	Fabry Disease	GLA - Exon 1, GLA - Exon 2, GLA - Exon 3, GLA - Exon 4, GLA - Exon 5, GLA - Exon 6, GLA - Exon 7	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331220	Factor 13A Deficiency	F13A1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53300624	Factor 7 deficiency	F7 - Exon 1, F7 - Exon 2, F7 - Exon 3, F7 - Exon 4, F7 - Exon 5, F7 - Exon 6, F7 - Exon 7, F7 - Exon 8	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
330047	Factor II (protrombin) mutation analysis	FII - G20210A	Sequence analysis	EDTA blood	2-3ml	7
3300493	Factor V leiden Mutation Analysis	FV - G1691A	Sequence analysis	EDTA blood	2-3ml	7
3300515	Factor V R2 Mutation Analysis	FV - H1299R	Sequence analysis	EDTA blood	2-3ml	7
332017	Factor XII (HAE) Mutation Analysis	FXII - HAE	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
331992	Factor XIII Mutation Analysis	FXIII - V34L	Sequence analysis	AS, CVS, EDTA blood	2-3ml	10
3332031	Familial Cold Autoinflammatory Syndrome 4 (FCAS4) ; Autoinflammation with Infantile Enterocolitis (AIFEC)	NLRC4 - Exon 3, NLRC4 - Exon 4, NLRC4 - Exon 5, NLRC4 - Exon 6, NLRC4 - Exon 7, NLRC4 - Exon 8, NLRC4 - Exon 9	Sequence analysis	EDTA blood	2-3ml	15
53331720	Familial Hypercholesterolaemia	PCSK9 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53330870	Familial Hypercholesterolaemia	APOA2 - Exon 1, APOA2 - Exon 2, APOA2 - Exon 3, APOA2 - Exon 4	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331470	Familial Hypercholesterolaemia	LDLR - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53330880	Familial Hypercholesterolaemia Type 2	APOB - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331520	Familial Partial Lipodystrophy Type 2	LMNA - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331770	Familial Partial Lipodystrophy Type 3	PPARG - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331730	Familial Partial Lipodystrophy Type 4	PLIN1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53331510	Familial Partial Lipodystrophy Type 6	LIPE - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40
53330990	Familial Partial Lipodystrophy Type 7	CAV1 - Whole Gene	Sequence analysis	AS, CVS, EDTA blood	2-3 ml	40

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